Term IRI Term label Parent term IRI Parent term label Alternative term Definition http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A structural anomaly of the nephron. http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/MONDO_0003757 paraplegia http://purl.obolibrary.org/obo/MONDO_0006496 palsy Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). http://purl.obolibrary.org/obo/OAE_0000027 musculoskeletal or connective tissue AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event musculoskeletal and connective tissue disorder AE an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue. http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Atrophy of the kidney. http://purl.obolibrary.org/obo/MONDO_0003776 renal pelvis inverted papilloma http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder A inherited lipid metabolism disorder that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OAE_0000040 procedural complication AE http://purl.obolibrary.org/obo/OAE_0002626 injury or procedural complication AE procedure AE an adverse event that shows a complication that occurs after a medical procedure and is directly related to the precedure itself. http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion An abnormal amount of urine production. http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0015924 pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). http://purl.obolibrary.org/obo/MONDO_0003777 renal pelvis urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OAE_0000066 surgery AE http://purl.obolibrary.org/obo/OAE_0000040 procedural complication AE surgical procedure AE a procedure complication AE that occurs after a surgery. http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease A disorder in which the immune system is unable to mount an adequate immune response. http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease An autoimmune form of systemic disease. http://purl.obolibrary.org/obo/OAE_0000067 surgery http://purl.obolibrary.org/obo/OAE_0002807 medical procedure surgical procedure Surgery is a medical procedure that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, to help improve bodily function or appearance. The key difference between a surgery and a general procedure is the need for an incision. Making an incision, or cutting into the skin to gain access to the body’s deeper tissues or organs, is a defining characteristic of surgery. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Functional anomaly of the kidney persisting for at least three months. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/OAE_0000493 cardiovascular AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event cardiovascular disorder AE an AE that occurs in cardiovascular system. http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event disruptive behavioral disorder AE an adverse event that has an outcome of an abnormal behavior and neurological phenotype. http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0016072 anomaly of puberty or/and menstrual cycle of genetic origin http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0003785 leukopenia http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/OAE_0000619 hematuria AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event haematuria AE a urinary system AE that results in the presence of blood in the urine http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0016168 cryopyrin-associated periodic syndrome http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/OAE_0000633 life-threating AE http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event apparent life threatening event AE a serious AE that is suspected to put the patient at substantial risk of dying at the time of the adverse event, or that the use or continued use of the device or other medical product might have resulted in the death of the patient. http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/OAE_0000634 hospitalization AE http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event adverse event leading to hospitalization a serious adverse event that leads to hospitalization. Such an adverse event resulted in an admission to the hospital or prolongation of hospitalization. http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease A disease involving the aortic valve. http://purl.obolibrary.org/obo/OAE_0000635 disability or permanent damage AE http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event adverse event leading to disability a serious adverse event that leads to disability or permanent damage. Such an adverse event results in a substantial disruption of a person's ability to conduct normal life functions, i.e., the adverse event resulted in a significant, persistent or permanent change, impairment, damage or disruption in the patient's body function/structure, physical activities and/or quality of life. http://purl.obolibrary.org/obo/HP_0100022 Abnormality of movement http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy A disease involving the articular cartilage of joint. http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/OAE_0000636 congenital anomaly or birth defect AE http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event adverse event leading to congenital anomaly a serious adverse event that resulted in congenital anomaly and bith defect, leading to suspicions that an exposure to a medical product prior to conception or during pregnancy resulted in an adverse outcome in the child. http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/MONDO_0003824 hereditary kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0100242 Sarcoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. http://purl.obolibrary.org/obo/MONDO_0016631 hemorrhagic disorder due to an acquired platelet anomaly http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly A hemorrhagic disorder due to a platelet anomaly which develops after birth. http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/HP_0100324 Scleroderma http://purl.obolibrary.org/obo/HP_0001072 Thickened skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE http://purl.obolibrary.org/obo/OAE_0000493 cardiovascular AE haematoma AE an cardiovascular adverse event that is a collection of blood outside the blood vessels, generally the result of hemorrhage, or more specifically, internal bleeding. It is commonly called a bruise. http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. http://purl.obolibrary.org/obo/MONDO_0016906 partial deletion of the long arm of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event http://purl.obolibrary.org/obo/PATO_0001236 process quality AE severity a process quality that represents the level of severity of an adverse event. http://purl.obolibrary.org/obo/MONDO_0016907 partial deletion of the long arm of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. http://purl.obolibrary.org/obo/OAE_0001835 AE severity G0 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 0 a severity of AE that shows sign and symptom within normal limits. http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease involving the connective tissue. http://purl.obolibrary.org/obo/OAE_0001836 AE severity G1 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 1 a severity of AE that shows asymptomatic, or involves mild or minor symptoms, or is of marginal clinical relevance, or consists of clinical or diagnostic observations alone, or where intervention is not indicated, or where only non-prescription intervention is indicated. http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/MONDO_0013248 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/MONDO_0017687 disorder of neutral amino acid transport http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. http://purl.obolibrary.org/obo/OAE_0001837 AE severity G2 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 2 a severity of AE for which only minimal, local, or noninvasive intervention (e.g. packing, cautery) is indicated, or that limits instrumental activities of daily living (ADLs, e.g., shopping, laundry, transportation, or ability to conduct finances). http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0017740 disorder of protein N-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein N-linked glycosylation. http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal site of the kidney. http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/OAE_0001838 AE severity G3 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 3 a severity of AE that shows an outcome which is medically significant but not life-threatening; or for which inpatient care or prolongation of hospitalization are indicated; or that is an important medical event that does not result in hospitalization, but may jeopardize the patient or may require intervention either to prevent hospitalization, to prevent the AE from becoming life-threatening or causing death; or that is disabling; or that results in persistent or significant disability, incapacity, or limitation of self care activities of daily living (ADLs, getting in and out of bed, dressing, eating, getting around inside, bathing, or using the toilet). http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/OAE_0001839 AE severity G4 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 4 a severity of AE that has life-threatening consequences, for which urgent intervention is indicated, that puts the patient is at risk of death at the time of the event if immediate intervention is not undertaken, or that causes blindness or deafness (need to decide if unilateral or bilateral). http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease A disease involving the muscle tissue. http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/OAE_0001840 AE severity G5 http://purl.obolibrary.org/obo/OAE_0001750 severity of adverse event AE severity Grade 5 a severity of AE that results in death. http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/OAE_0002626 injury or procedural complication AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event injury and procedural complication AE an adverse event that shows a result of injury or procedural complication. http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker Acute Kidney Injury biomarker A biomarker of the acute kidney injury. http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/MF_0000076 intentional modality http://purl.obolibrary.org/obo/MF_0000033 mental disposition intentional structure A structural capacity that shapes how an object of intentionality is represented for the subject. http://purl.obolibrary.org/obo/OPMI_0000582 clnical measurement identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID measurement ID A unique key given to a Measurement record for a Person. Such record can be used in the ETL for how duplicate Measurements during the same Visit were handled. http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/MONDO_0004038 dental enamel hypoplasia http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity goal specification A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved. http://purl.obolibrary.org/obo/HP_0100716 Self-injurious behavior http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior Aggression towards oneself. http://purl.obolibrary.org/obo/MONDO_0017991 Takayasu arteritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/IAO_0000030 information content entity data An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. http://purl.obolibrary.org/obo/MONDO_0013379 Noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/MONDO_0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. http://purl.obolibrary.org/obo/IAO_0000132 lot number http://purl.obolibrary.org/obo/IAO_0000028 symbol batch number A lot number is an information content entity which is an identical sequence of character borne by part of manufactured product or its packaging for each instances of a product class in a discrete batch of an item. Lot numbers are usually assigned to each separate production run of an item. Manufacturing as a lot might be due to a variety of reasons, for example, a single process during which many individuals are made from the same portion of source material. Lot numbers can be encoded in a pattern of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. http://purl.obolibrary.org/obo/MONDO_0013441 asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/IAO_0000184 scatter plot http://purl.obolibrary.org/obo/IAO_0000038 graph scattergraph A scatterplot is a graph which uses Cartesian coordinates to display values for two variables for a set of data. The data is displayed as a collection of points, each having the value of one variable determining the position on the horizontal axis and the value of the other variable determining the position on the vertical axis. http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/IAO_0000300 textual entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity text A textual entity is a part of a manifestation (FRBR sense), a generically dependent continuant whose concretizations are patterns of glyphs intended to be interpreted as words, formulas, etc. http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/IAO_0000573 line graph http://purl.obolibrary.org/obo/IAO_0000038 graph line chart A line graph is a type of graph created by connecting a series of data points together with a line. http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease An autoimmune form of thrombocytopenia. http://purl.obolibrary.org/obo/MONDO_0013442 nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/IAO_0000574 assigning a centrally registered identifier http://purl.obolibrary.org/obo/OBI_0000011 planned process assigning a CRID A planned process in which a new CRID is created, associated with an entity, and stored in the CRID registry thereby registering it as being associated with some entity http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol http://purl.obolibrary.org/obo/IAO_0000028 symbol CRID symbol A symbol that is part of a CRID and that is sufficient to look up a record from the CRID's registry. http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/UBERON_0000004 nose http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/IAO_0000030 information content entity Centrally Registered IDentifier An information content entity that consists of a CRID symbol and additional information about which CRID registry it belongs. http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) Anemia in which the red blood cell volume is normal. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0004177 benign urethral neoplasm http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/IAO_0000579 centrally registered identifier registry http://purl.obolibrary.org/obo/IAO_0000100 data set CRID registry A CRID registry is a dataset of CRID records, each consisting of a CRID symbol and additional information which was recorded in the dataset through a assigning a centrally registered identifier process. http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/OBI_0000032 clinical research coordinator role http://purl.obolibrary.org/obo/OBI_0000116 worker role clinical research coordinator a worker role comprised of handling the administrative duties of a trial or study. http://purl.obolibrary.org/obo/UBERON_0000033 head http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A inherited organic acidemia that involves the brain. http://purl.obolibrary.org/obo/MONDO_0013565 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCG gene. http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/MONDO_0004184 urethral disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urethra. http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/UBERON_0000057 urethra http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/MONDO_0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/OBI_0000070 assay http://purl.obolibrary.org/obo/OBI_0000011 planned process scientific observation A planned process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies. http://purl.obolibrary.org/obo/MONDO_0013569 short-rib thoracic dysplasia 7 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. http://purl.obolibrary.org/obo/MONDO_0013589 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/MONDO_0004190 nephrogenic adenoma of urinary bladder http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. http://purl.obolibrary.org/obo/MONDO_0019226 glucose transport disorder http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease An acquired metabolic disease that is has its basis in the disruption of glucose transport. http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/OBI_0000073 sample preparation for assay http://purl.obolibrary.org/obo/OBI_0000094 material processing study A sample_preparation_for_assay is a protocol_application including material_enrollments and biomaterial_transformations. definition_source: OBI. http://purl.obolibrary.org/obo/MONDO_0013717 asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/OBI_0000086 reagent role http://purl.obolibrary.org/obo/BFO_0000023 role reagent A role inhering in a biological or chemical entity that is intended to be applied in a scientific technique to participate (or have molecular components that participate) in a chemical reaction that facilitates the generation of data about some entity distinct from the bearer, or the generation of some specified material output distinct from the bearer. http://purl.obolibrary.org/obo/MONDO_0004323 muscular atrophy http://purl.obolibrary.org/obo/MONDO_0005336 myopathy The loss of muscle tissue due to inactivity or disease. http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease or disorder that involves the digestive system. http://purl.obolibrary.org/obo/MONDO_0019240 sterol biosynthesis disorder http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0013718 nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/MONDO_0004356 childhood multilocular cystic kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. http://purl.obolibrary.org/obo/OBI_0000093 patient role http://purl.obolibrary.org/obo/BFO_0000023 role patient a role which inheres in a person and is realized by the process of being under the care of a physician or health care provider http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/MONDO_0004375 end stage renal failure http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. http://purl.obolibrary.org/obo/MONDO_0019286 sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the sebaceous gland. http://purl.obolibrary.org/obo/OBI_0000094 material processing http://purl.obolibrary.org/obo/OBI_0000011 planned process material transformation A planned process which results in physical changes in a specified input material http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure A membranous fold of the heart that prevents reflux of fluid http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/MONDO_0004425 hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0004454 cellular congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0019341 tuberous sclerosis complex http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. http://purl.obolibrary.org/obo/UBERON_0000947 aorta http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. http://purl.obolibrary.org/obo/OBI_0000102 responsible party role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role responsible party a study personnel role played by a party who is accountable for the execution of a study component and can make decisions about the conduct of the study http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/MONDO_0004455 classic congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system A disease that has its basis in the disruption of heart development. http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/OBI_0000116 worker role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role worker a personnel role played by a party who executes a component of the study plan; this can occur before, during, after or outside the study timeline http://purl.obolibrary.org/obo/UBERON_0000959 optic chiasma http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role http://purl.obolibrary.org/obo/BFO_0000023 role investigator A role borne by an entity and that is realized in a process that is part of an investigation in which an objective is achieved. These processes include, among others: planning, overseeing, funding, reviewing. http://purl.obolibrary.org/obo/UBERON_0000974 neck http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/UBERON_0000991 gonad http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/MONDO_0013916 nephronophthisis 14 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema A lymphedema that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/MONDO_0004464 nephrogenic adenoma of the urethra http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://purl.obolibrary.org/obo/OBI_0000243 sponsor role http://purl.obolibrary.org/obo/OBI_0000102 responsible party role sponsor a responsible party role involved with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. http://purl.obolibrary.org/obo/MONDO_0014143 Noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OBI_0000423 extract http://purl.obolibrary.org/obo/OBI_0000047 processed material extracted material an extract is a material entity which results from an extraction process http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification artifact creation objective an objective specifiction that creates an specific output object from input materials. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma An angiomyolipoma occurring in childhood. http://purl.obolibrary.org/obo/UBERON_0001007 digestive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/OBI_0000520 clinical chemistry assay http://purl.obolibrary.org/obo/OBI_0000443 analyte assay detection of analyte in blood sample An analyte assay which uses analytical methods to produce measurements and data on the concentration of chemical parameters (analytes) present in a bodily fluid collected from an organism. http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa An angiomyolipoma arising from the kidney. http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/UBERON_0001008 renal system http://purl.obolibrary.org/obo/UBERON_8450002 excretory system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. http://purl.obolibrary.org/obo/OBI_0000576 scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity Collective A scattered molecular aggregate is a material entity that consists of all the molecules of a specific type that are located in some bounded region and which is part of a more massive material entity that has parts that are other such aggregates http://purl.obolibrary.org/obo/MONDO_0014214 short-rib thoracic dysplasia 8 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/MONDO_0019982 bilateral multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. http://purl.obolibrary.org/obo/MONDO_0020072 childhood-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome A epilepsy syndrome that occurs during childhood. http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease Degeneration of the retina. http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process http://purl.obolibrary.org/obo/OBI_0000011 planned process specimen collection A planned process with the objective of collecting a specimen. http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/MONDO_0014287 short-rib thoracic dysplasia 11 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. http://purl.obolibrary.org/obo/OBI_0000661 enzyme-linked immunosorbent assay http://purl.obolibrary.org/obo/OBI_0000443 analyte assay ELISA An analyte assay where binding of an enzyme linked antibody to a material entity that is immobilized on solid support is detected utilizing a chemiluminescent reaction. Depending on the setup, the enzyme-linked antibody could be binding directly to the analyte, or it serves as a secondary antibody detecting binding of the primary antibody to the analyte. http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/MONDO_0014374 nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. http://purl.obolibrary.org/obo/OBI_0000747 material sample http://purl.obolibrary.org/obo/OBI_0100051 specimen sample population A material entity that has the material sample role http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/OBI_0000877 cell line immortalization http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line 'establishing immortal cell line through directed genetic modification' an establishing cell line process whereby a mortal cell line is intentionally genetically modified to be capable of indefinite propagation and re-established as a new immortal cell line http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A disease involving the skeletal muscle tissue. http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0001161 body of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/OBI_0000938 categorical measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum nominal mesurement datum A measurement datum that is reported on a categorical scale http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. http://purl.obolibrary.org/obo/MONDO_0020153 cryptophthalmia http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0014434 Bardet-Biedl syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. http://purl.obolibrary.org/obo/OBI_0000968 device http://purl.obolibrary.org/obo/OBI_0000047 processed material instrument A material entity that is designed to perform a function in a scientific investigation, but is not a reagent. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism http://purl.obolibrary.org/obo/OBI_0100051 specimen tissue specimen A specimen that derives from an anatomical part or substance arising from an organism. Examples of tissue specimen include tissue, organ, physiological system, blood, or body location (arm). http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0014435 Bardet-Biedl syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol specimen ID A CRID symbol denotes a specimen and used to distinguish one specimen from another in an investigation. http://purl.obolibrary.org/obo/OBI_0001755 selection criterion http://purl.obolibrary.org/obo/IAO_0000033 directive information entity selection rule A directive information entity which defines and states a principle of standard by which selection process may take place. http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019726 type II mixed cryoglobulinemia http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). http://purl.obolibrary.org/obo/MONDO_0014436 Bardet-Biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population http://purl.obolibrary.org/obo/OBI_0100060 cultured cell population secondary cell culture sample A cultured cell population that is derived through one or more passages in culture. http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal dominant form of polycystic kidney disease. http://purl.obolibrary.org/obo/MONDO_0014437 Bardet-Biedl syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/OBI_0001928 selection http://purl.obolibrary.org/obo/OBI_0000011 planned process selection process A planned process which results in the creation of group of entity from a larger group by the application of predefined criteria. http://purl.obolibrary.org/obo/UBERON_0001224 renal pelvis http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/OBI_0100060 cultured cell population http://purl.obolibrary.org/obo/OBI_0000047 processed material cell culture sample A processed material comprised of a collection of cultured cells that has been continuously maintained together in culture and shares a common propagation history. http://purl.obolibrary.org/obo/OBI_0500000 study design http://purl.obolibrary.org/obo/IAO_0000104 plan specification experimental design A plan specification comprised of protocols (which may specify how and what kinds of data will be gathered) that are executed as part of an investigation and is realized during a study design execution. http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0004732 kidney carcinoma in situ http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma in situ involving a kidney. http://purl.obolibrary.org/obo/MONDO_0019727 mixed cryoglobulinemia type III http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. http://purl.obolibrary.org/obo/MONDO_0014438 Bardet-Biedl syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion http://purl.obolibrary.org/obo/OBI_0001755 selection criterion eligibility rule an eligibility criterion (rule) is_a selection criterion which defines and states the requirements (positive or negative) for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. http://purl.obolibrary.org/obo/MONDO_0019840 acropectororenal dysplasia http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion inclusion rule an inclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity suitable for a given task or participation in a given process. For instance, in a study protocol, inclusion criteria indicate the conditions that prospective subjects MUST meet to be eligible for participation in a study. http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. http://purl.obolibrary.org/obo/MONDO_0019979 renal hypoplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/OBI_0600037 cell culture splitting http://purl.obolibrary.org/obo/OBI_0600014 material component separation cell culture passaging The act of taking part of a homogeneous cell culture and creating one or more additional separate cultures of similar qualities. input: cell_culture, output cell_culture min cardinality 2. part of cell culturing http://purl.obolibrary.org/obo/MONDO_0014440 Bardet-Biedl syndrome 12 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation http://purl.obolibrary.org/obo/OBI_0000094 material processing genetic modification the introduction. alteration or integration of genetic material into a cell or organism http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/SO_0000001 region http://purl.obolibrary.org/obo/SO_0000110 sequence_feature primary structure of sequence macromolecule A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. http://purl.obolibrary.org/obo/VO_0000002 vaccination http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo vaccine administration a medical intervention that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intent to invoke an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0019980 renal hypoplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. http://purl.obolibrary.org/obo/MONDO_0019981 unilateral multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/MONDO_0019984 renal tubular dysgenesis due to twin-twin transfusion http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' http://purl.obolibrary.org/obo/MONDO_0019988 pauci-immune glomerulonephritis with ANCA http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. http://purl.obolibrary.org/obo/MONDO_0019989 pauci-immune glomerulonephritis without ANCA http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. http://purl.obolibrary.org/obo/UBERON_0001264 pancreas http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/ICO_0000001 informed consent form http://purl.obolibrary.org/obo/IAO_0021007 document act input document informed consent document A document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and is an instrument in obtaining consent and, after having obtained consent, is a record that such a consent has occurred. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/MONDO_0004747 cleft lip (disease) http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. http://purl.obolibrary.org/obo/MONDO_0014441 Bardet-Biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0019990 non-amyloid fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/UBERON_0001456 face http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/OPMI_0000594 medical observation data http://purl.obolibrary.org/obo/IAO_0000027 data item medical observation A data item that captures clinical facts about a patient obtained in the context of examination, questioning or a procedure. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/MONDO_0019993 congenital renal artery stenosis http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension A narrowing of renal arteries that is present since birth. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease involving leukocytes. http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/OPMI_0000091 day of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time birth date A day when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/OPMI_0000417 patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human patient a human who is a recipient of a health care service performed by healthcare professionals. http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0004841 kidney hypertrophy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Global enlargement of the renal parenchyma in one or both kidneys. http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/MONDO_0020216 secondary dysgenetic glaucoma http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity polymer A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disease http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A disease involving the upper respiratory tract. http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0014445 Bardet-Biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. http://purl.obolibrary.org/obo/ICO_0000005 signing an informed consent form http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that is a part of an informed consent process and has output of a signed informed consent form. The signing process leads to a legal obligation. http://purl.obolibrary.org/obo/MONDO_0004868 biliary tract disease http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease A disease involving the biliary tree. http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/MONDO_0014446 Bardet-Biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm A cancer that involves the adrenal cortex. http://purl.obolibrary.org/obo/GO_0120054 intestinal motility http://purl.obolibrary.org/obo/GO_0022600 digestive system process Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disease http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease A neurodegenerative disease that involves the eye. http://purl.obolibrary.org/obo/MONDO_0014447 Bardet-Biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. http://purl.obolibrary.org/obo/MONDO_0021540 hamartoma of lung http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm A hamartoma (disease) that involves the lung. http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/ECTO_0000002 exposure to electromagnetic radiation http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. http://purl.obolibrary.org/obo/UBERON_0001768 uvea http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder http://purl.obolibrary.org/obo/MONDO_0006873 nutritional deficiency disease A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://purl.obolibrary.org/obo/MONDO_0004959 plasma cell neoplasm http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. http://purl.obolibrary.org/obo/UBERON_0001769 iris http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder Diminished or absent ability of a female to achieve conception. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/MONDO_0014462 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. http://purl.obolibrary.org/obo/MONDO_0024327 chronic renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Impairment of the renal function due to chronic kidney damage. http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. http://purl.obolibrary.org/obo/MONDO_0021127 has a syndromic presentation http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. http://purl.obolibrary.org/obo/MONDO_0014537 nephronophthisis 19 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0150063 visual system development http://purl.obolibrary.org/obo/GO_0048880 sensory system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/MONDO_0004972 adenoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina http://purl.obolibrary.org/obo/MONDO_0004978 aortic stenosis http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease In the same amount or manner; to the same degree; in the role, function, or capacity of. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0031922 Renal artery duplication http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. http://purl.obolibrary.org/obo/MONDO_0021128 has an isolated presentation http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated An characteristic of a disease in which the disease is manifested as an isolated feature. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/MONDO_0014577 short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. http://purl.obolibrary.org/obo/MONDO_0021136 rare http://purl.obolibrary.org/obo/MONDO_0021135 rare or common A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. http://purl.obolibrary.org/obo/MONDO_0014638 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0021145 disease of genitourinary system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the genitourinary system. http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0021148 female reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The division of the forebrain that develops from the foremost primary cerebral vesicle. http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. http://purl.obolibrary.org/obo/MONDO_0014691 Noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0021152 inherited http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001908 optic tract http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/UBERON_0001987 placenta http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder A hypertensive disorder that develops during pregnancy. http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease involving a pathogenic inflammatory response in the anatomical structure. http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0014692 retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/MONDO_0025370 urogenital neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Tumors or cancer of the urogenital system in either the male or the female. http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/UBERON_0002067 dermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/MONDO_0014693 Noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. http://purl.obolibrary.org/obo/MONDO_0021167 myositis http://purl.obolibrary.org/obo/MONDO_0005336 myopathy An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. http://purl.obolibrary.org/obo/MONDO_0029001 chemically-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/MONDO_0005004 clear cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. http://purl.obolibrary.org/obo/MONDO_0021179 proteostasis deficiencies http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group r http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/MONDO_0021181 inherited blood coagulation disorder http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/MONDO_0005006 clear cell sarcoma of kidney http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The soft tissue that fills the cavities of bones. http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure http://purl.obolibrary.org/obo/MONDO_0005252 heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disease A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility http://purl.obolibrary.org/obo/BFO_0000016 disposition A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0014997 nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. http://purl.obolibrary.org/obo/MONDO_0021190 DNA repair disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of DNA repair. http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/MONDO_0005019 diffuse scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. http://purl.obolibrary.org/obo/MONDO_0043424 digestive system infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems http://purl.obolibrary.org/obo/MONDO_0021140 congenital http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired A characteristic of a disease in which the disease is present at birth, regardless of cause. http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/UBERON_0002495 long bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. http://purl.obolibrary.org/obo/MONDO_0043494 arteritis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis An inflammatory process affecting an artery. http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/MONDO_0043549 crush syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. http://purl.obolibrary.org/obo/MONDO_0043985 central nervous system lupus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. http://purl.obolibrary.org/obo/MONDO_0044210 thalassemia minor http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB The inheritance of only one mutated beta-globin allele (beta+ or beta0). http://purl.obolibrary.org/obo/MONDO_0045036 primary infectious http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic A characteristic of an infectious disease in which the disease affects an immunologically normal host. http://purl.obolibrary.org/obo/MONDO_0021189 intestinal motility disease http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A disease that has its basis in the disruption of intestinal motility. http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0003129 skull http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/MONDO_0100033 metabolic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease http://purl.obolibrary.org/obo/MONDO_0021145 disease of genitourinary system A disease involving the reproductive system. http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. http://purl.obolibrary.org/obo/HP_0031703 Abnormal ear morphology http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear Any structural anomaly of the ear. http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/HP_0031704 Abnormal ear physiology http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear Any functional anomaly of the ear. http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease An instance of skin disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. http://purl.obolibrary.org/obo/MONDO_0005042 head disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder A disease involving the head. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0024889 benign mesonephroma http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A disease that has its basis in the disruption of cardiovascular system development. http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. http://purl.obolibrary.org/obo/MONDO_0005043 hyperplasia http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0040870 primary polydipsia http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/MONDO_0024493 tumor grade 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0041295 acute papillary necrosis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Acute form of kidney papillary necrosis. http://purl.obolibrary.org/obo/UBERON_0007798 vascular system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/OPMI_0000001 precision medicine process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that achieves the planned objective of precision medicine objective. Specifically, it is a medical process that includes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the individual patient. http://purl.obolibrary.org/obo/MONDO_0015912 MYH-9 related disease http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease or disorder that is induced by either chemical or radiation exposure. http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/MONDO_0005275 lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. http://purl.obolibrary.org/obo/OPMI_0000002 precision medicine investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation An investigation that is targeted for precision medicine http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disorder resulting from an abnormality in the immune system. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. http://purl.obolibrary.org/obo/OPMI_0000003 household size http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data the number of people living together supported jointly by an household income http://purl.obolibrary.org/obo/ENVO_01001446 usage of an environment for residential activity http://purl.obolibrary.org/obo/ENVO_01001436 planned environmental usage process A planned environmental usage process during which an environment supports the settlement and dwelling of a community of humans. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. http://purl.obolibrary.org/obo/UBERON_0016490 auditory system http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/ENVO_01001436 planned environmental usage process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A planned process during which humans access and obtain resources, benefits, or services from a natural or anthropised ecosystem. http://purl.obolibrary.org/obo/PR_000044660 voltage-gated sodium channel protein http://purl.obolibrary.org/obo/PR_000044628 voltage-gated ion channel protein A voltage-gated ion channel protein that has voltage-gated sodium channel activity. A voltage-gated sodium channel enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/UBERON_0018707 bladder organ http://purl.obolibrary.org/obo/UBERON_0009856 sac A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://purl.obolibrary.org/obo/PR_000049983 ion channel protein http://purl.obolibrary.org/obo/PR_000044676 channel protein A channel protein that has ion channel activity. An ion channel enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/BFO_0000002 continuant http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://purl.obolibrary.org/obo/PR_000044628 voltage-gated ion channel protein http://purl.obolibrary.org/obo/PR_000049983 ion channel protein An ion channel protein that has voltage-gated ion channel activity. A voltage-gated ion channel enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/MONDO_0016356 diffuse cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/MONDO_0100151 nephropathic cystinosis http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that has temporal parts and that happens, unfolds or develops through time. http://purl.obolibrary.org/obo/PR_000044655 potassium channel protein http://purl.obolibrary.org/obo/PR_000044628 voltage-gated ion channel protein A voltage-gated ion channel protein that has potassium channel activity. A potassium channel enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/KTAO_0000036 podocytopathy marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the podocytopathy (podocyte injury). An example of such a marker is Ezrin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/PR_000044676 channel protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that has channel activity. Channel proteins enable energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. http://purl.obolibrary.org/obo/PR_P08575-8 receptor-type tyrosine-protein phosphatase C isoform CD45RA (human) http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA A receptor-type tyrosine-protein phosphatase C isoform CD45RA that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. http://purl.obolibrary.org/obo/KTAO_0000037 Denys-Drash syndrome podocyte marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the DDS (Denys-Drash syndrome) in podocyte. An example of such a marker is VEGF (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/MONDO_0100070 neuroendocrine disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. http://purl.obolibrary.org/obo/KTAO_0000038 podocyte maturation marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the podocyte maturity. An example of such a marker is Vimentin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/GO_0120254 olefinic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/PR_000050567 protein-containing material entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that minimally consists of a protein. http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/GO_0120255 olefinic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/BFO_0000017 realizable entity A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. http://purl.obolibrary.org/obo/BFO_0000035 process boundary http://purl.obolibrary.org/obo/BFO_0000003 occurrent p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) http://purl.obolibrary.org/obo/UBERON_0000310 breast http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone The upper ventral region of the torso of an organism. http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition that a material entity (e.g., gene or protein) is susceptible to be up or down-regulated in an organism or virus. http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disease that has its basis in the disruption of mental process. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/CL_4030009 epithelial cell of proximal tubule segment 1 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 1 (S1) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/CL_4030011 epithelial cell of proximal tubule segment 3 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 3 (S3) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A peptide containing ten or more amino acid residues. http://purl.obolibrary.org/obo/BFO_0000144 process profile http://purl.obolibrary.org/obo/BFO_0000015 process b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/CHEBI_38311 cephem A class of beta-lactam antibiotics differing from the penicillins in having a 6-membered, rather than a 5-membered, side ring. http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities http://purl.obolibrary.org/obo/CLO_0000001 cell line cell http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 http://purl.obolibrary.org/obo/CHEBI_27933 beta-lactam antibiotic http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma that arises from glandular epithelial cells of the kidney http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/CHEBI_33261 organosulfur compound http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity An organosulfur compound is a compound containing at least one carbon-sulfur bond. http://purl.obolibrary.org/obo/CLO_0000019 immortal cell line cell http://purl.obolibrary.org/obo/CLO_0000001 cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis Autosomal recessive form of inherited ichthyosis. http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/PATO_0000025 composition http://purl.obolibrary.org/obo/PATO_0000141 structure A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/CLO_0000031 细胞系 http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/PATO_0000051 morphology http://purl.obolibrary.org/obo/BFO_0000019 quality A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/CHEBI_35341 steroid http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids. http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line http://purl.obolibrary.org/obo/CLO_0000031 细胞系 A cell line that is expected to be capable of indefinite propagation in an vitro culture. http://purl.obolibrary.org/obo/CHEBI_35627 beta-lactam http://purl.obolibrary.org/obo/CHEBI_24995 lactam A beta-lactam is a lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. http://purl.obolibrary.org/obo/ENVO_00010483 environmental material http://purl.obolibrary.org/obo/BFO_0000040 material entity A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma http://purl.obolibrary.org/obo/MONDO_0004992 cancer A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/PATO_0000052 shape http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). http://purl.obolibrary.org/obo/GAZ_00000448 geographic location http://purl.obolibrary.org/obo/BFO_0000029 site A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/CHEBI_50904 allergen http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label http://purl.obolibrary.org/obo/IAO_0000009 datum label A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern http://purl.obolibrary.org/obo/PATO_0000051 morphology A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/CHEBI_5686 heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of at least two different elements. http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) http://purl.obolibrary.org/obo/PATO_0000068 qualitative A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic tumor An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://purl.obolibrary.org/obo/IAO_0000007 action specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity that describes an action the bearer will take. http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. http://purl.obolibrary.org/obo/CHEBI_132153 hyaluronate http://purl.obolibrary.org/obo/CHEBI_63551 carbohydrate acid derivative anion A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/IAO_0000009 datum label http://purl.obolibrary.org/obo/IAO_0000030 information content entity A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://purl.obolibrary.org/obo/MONDO_0005096 squamous cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. http://purl.obolibrary.org/obo/PATO_0000070 amount http://purl.obolibrary.org/obo/PATO_0000068 qualitative The number of entities of this type that are part of the whole organism. http://purl.obolibrary.org/obo/CHEBI_16336 hyaluronic acid http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. http://purl.obolibrary.org/obo/CHEBI_17334 penicillin http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/PATO_0000117 size http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. http://purl.obolibrary.org/obo/PATO_0000119 height http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A 1-D extent quality inhering in a bearer by virtue of the bearer's vertical dimension of extension. http://purl.obolibrary.org/obo/CHEBI_18059 lipid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/IAO_0000017 model number http://purl.obolibrary.org/obo/IAO_0000028 symbol A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality inhering in a bearer that has mass near a gravitational body. http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/CHEBI_23357 cofactor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). http://purl.obolibrary.org/obo/MONDO_0005106 lipoma http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease Any disease caused by a virus. http://purl.obolibrary.org/obo/PATO_0000140 position http://purl.obolibrary.org/obo/PATO_0001018 physical quality A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. http://purl.obolibrary.org/obo/CHEBI_24833 oxoacid http://purl.obolibrary.org/obo/CHEBI_24651 hydroxides A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/IAO_0000028 symbol http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/PATO_0000141 structure http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/MONDO_0005109 HIV infectious disease http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection An infection caused by the human immunodeficiency virus. http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. http://purl.obolibrary.org/obo/CHEBI_25367 molecule http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/PATO_0000161 rate http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. http://purl.obolibrary.org/obo/PATO_0000389 acute http://purl.obolibrary.org/obo/PATO_0001309 duration A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/CHEBI_25696 organic anion http://purl.obolibrary.org/obo/CHEBI_25699 organic ion Any organic ion with a net negative charge. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PATO_0000402 branched http://purl.obolibrary.org/obo/PATO_0002009 branchiness A branchiness quality inhering in a bearer by virtue of the bearer's having branches. http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/PATO_0000411 circular http://purl.obolibrary.org/obo/PATO_0000947 elliptic A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. http://purl.obolibrary.org/obo/IAO_0000029 numeral http://purl.obolibrary.org/obo/IAO_0000028 symbol A symbol that denotes a number. http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/CHEBI_35406 oxoanion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/IAO_0000031 integer numeral http://purl.obolibrary.org/obo/IAO_0000029 numeral a numeral that denotes an integer http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease Any condition related to a disturbance between proper intake and utilization of nourishment. http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. http://purl.obolibrary.org/obo/PATO_0000440 regular spatial pattern http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern A pattern quality inhering in a bearer by virtue of the bearer's having a repeatable or predictable placement. http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A chronic condition characterized by minimal or absent production of insulin by the pancreas. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://purl.obolibrary.org/obo/IAO_0000033 directive information entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. http://purl.obolibrary.org/obo/CHEBI_30413 heme http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin A heme is any tetrapyrrolic chelate of iron. http://purl.obolibrary.org/obo/IAO_0000037 dot plot http://purl.obolibrary.org/obo/IAO_0000038 graph A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/IAO_0000309 diagram A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/IAO_0000078 curation status specification http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group or skeleton containing carbon. http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Increased pressure within the pulmonary circulation due to lung or heart disorder. http://purl.obolibrary.org/obo/PATO_0000460 abnormal http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/IAO_0000079 density plot http://purl.obolibrary.org/obo/IAO_0000038 graph A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the endocrine system. http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/PATO_0000461 normal http://purl.obolibrary.org/obo/PATO_0000068 qualitative A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/IAO_0000100 data set http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. http://purl.obolibrary.org/obo/MONDO_0005152 hypopituitarism http://purl.obolibrary.org/obo/MONDO_0003381 pituitary gland disease A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. http://purl.obolibrary.org/obo/CHEBI_33893 reagent http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a chemical reaction to detect, measure, examine, or produce other substances. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/MONDO_0018227 hypocomplementemic urticarial vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/PATO_0000462 absent http://purl.obolibrary.org/obo/PATO_0000070 amount A quality denoting the lack of an entity. http://purl.obolibrary.org/obo/MONDO_0005153 cervical adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. http://purl.obolibrary.org/obo/IAO_0000101 image http://purl.obolibrary.org/obo/IAO_0000308 figure An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the liver. http://purl.obolibrary.org/obo/CHEBI_35222 inhibitor http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that diminishes the rate of a chemical reaction. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A disorder of the development of bone in which ossification is affected. http://purl.obolibrary.org/obo/PATO_0000467 present http://purl.obolibrary.org/obo/PATO_0000070 amount A quality inhering in a bearer by virtue of the bearer's existence. http://purl.obolibrary.org/obo/CHEBI_35238 amino acid zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). http://purl.obolibrary.org/obo/MONDO_0005156 encephalomyelitis http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease Inflammation of the brain and the spinal cord. http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part http://purl.obolibrary.org/obo/IAO_0000027 data item Data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/PATO_0000470 increased amount http://purl.obolibrary.org/obo/PATO_0002300 increased quality An amount which is relatively high. http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/CHEBI_35294 carbopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound A polyclic compound in which all of the ring members are carbon atoms. http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/IAO_0000104 plan specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. http://purl.obolibrary.org/obo/MONDO_0005157 lymphoid neoplasm http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/CHEBI_36587 organic oxo compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/PATO_0000586 increased size http://purl.obolibrary.org/obo/PATO_0002305 increased object quality A size quality which is relatively high. http://purl.obolibrary.org/obo/CHEBI_48705 agonist http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/CHEBI_50733 nutraceutical http://purl.obolibrary.org/obo/CHEBI_23888 drug A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/IAO_0000027 data item A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role played by the molecular entity or part thereof within a biochemical context. http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. http://purl.obolibrary.org/obo/PATO_0000587 decreased size http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A size quality which is relatively low. http://purl.obolibrary.org/obo/IAO_0000129 version number http://purl.obolibrary.org/obo/IAO_0000028 symbol A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical http://purl.obolibrary.org/obo/CHEBI_33232 application Any substance introduced into a living organism with therapeutic or diagnostic purpose. http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. http://purl.obolibrary.org/obo/IAO_0000131 serial number http://purl.obolibrary.org/obo/IAO_0000028 symbol A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/PATO_0000614 oriented http://purl.obolibrary.org/obo/PATO_0000440 regular spatial pattern A pattern where all the repeated elements are oriented in the same direction. http://purl.obolibrary.org/obo/CHEBI_60164 ionic polymer http://purl.obolibrary.org/obo/CHEBI_60027 polymer An ionic polymer is a polymer, composed of ionic macromolecules. http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/PATO_0000618 bilateral http://purl.obolibrary.org/obo/PATO_0000140 position A positional quality inhering in a bearer by virtue of the bearer's having two sides; two-sided. http://purl.obolibrary.org/obo/IAO_0000179 histogram http://purl.obolibrary.org/obo/IAO_0000038 graph A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease A disease involving the skeletal system. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/CHEBI_61469 polyanionic polymer http://purl.obolibrary.org/obo/CHEBI_60164 ionic polymer A polymer, composed of polyanion macromolecules. http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/CHEBI_63436 carbohydrate acid derivative http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/IAO_0000180 heatmap http://purl.obolibrary.org/obo/IAO_0000038 graph A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young (disease) http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/PATO_0000628 mislocalised http://purl.obolibrary.org/obo/PATO_0002181 displaced A positional quality inhering in a bearer by virtue the bearer's being changed in abnormal position. http://purl.obolibrary.org/obo/CHEBI_63551 carbohydrate acid derivative anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/CHEBI_64909 poison http://purl.obolibrary.org/obo/CHEBI_24432 biological role Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_65212 polysaccharide derivative http://purl.obolibrary.org/obo/CHEBI_167559 glycan A carbohydrate derivative that is any derivative of a polysaccharide. http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite Any animal metabolite produced during a metabolic reaction in mammals. http://purl.obolibrary.org/obo/CHEBI_75769 B vitamin http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin A role played by any of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B). The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). B vitamins play important roles in cell metabolism. http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/CHEBI_78608 alpha-amino acid zwitterion http://purl.obolibrary.org/obo/CHEBI_35238 amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. http://purl.obolibrary.org/obo/CHEBI_22221 acyl group http://purl.obolibrary.org/obo/CHEBI_33247 organic group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. http://purl.obolibrary.org/obo/PATO_0000634 unilateral http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern A spatial pattern inhering in a bearer by virtue of the bearer's involvement of only one part or side. http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. http://purl.obolibrary.org/obo/PATO_0000640 dysplastic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's exhibiting an alteration in size, shape or organization of its constituent cells. http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma involving a uterus. http://purl.obolibrary.org/obo/PATO_0000645 hypoplastic http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A physical quality inhering in an organ or tissue by virtue of the bearer's exhibiting a decreased number of cells, typically associated with a decrease in size. http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. http://purl.obolibrary.org/obo/MONDO_0005220 collecting duct carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma that arises from epithelial cells of the collecting duct of renal tubule http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the kidney. http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. http://purl.obolibrary.org/obo/MONDO_0005247 urinary tract infection (disease) http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. http://purl.obolibrary.org/obo/MONDO_0005252 heart failure http://purl.obolibrary.org/obo/MONDO_0005267 heart disease Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A disease involving the heart and/or pericardium. http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease A disease involving the lung. http://purl.obolibrary.org/obo/IAO_0000181 Venn diagram http://purl.obolibrary.org/obo/IAO_0000038 graph A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/CHEBI_22563 anion http://purl.obolibrary.org/obo/CHEBI_24870 ion A monoatomic or polyatomic species having one or more elementary charges of the electron. http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/PATO_0000647 necrotic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. http://purl.obolibrary.org/obo/MONDO_0005282 cutaneous lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. http://purl.obolibrary.org/obo/IAO_0000183 dendrogram http://purl.obolibrary.org/obo/IAO_0000038 graph A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/CHEBI_23004 carbamoyl group http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. http://purl.obolibrary.org/obo/PATO_0000911 decreased rate http://purl.obolibrary.org/obo/PATO_0002302 decreased process quality A rate which is relatively low. http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease or disorder of the retina. http://purl.obolibrary.org/obo/IAO_0000185 photograph http://purl.obolibrary.org/obo/IAO_0000101 image A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://purl.obolibrary.org/obo/PATO_0000912 increased rate http://purl.obolibrary.org/obo/PATO_0002304 increased process quality A rate which is relatively high. http://purl.obolibrary.org/obo/MONDO_0005294 peripheral vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. http://purl.obolibrary.org/obo/PATO_0000947 elliptic http://purl.obolibrary.org/obo/PATO_0002318 superelliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. http://purl.obolibrary.org/obo/MONDO_0005298 osteoporosis http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). http://purl.obolibrary.org/obo/PATO_0001018 physical quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. http://purl.obolibrary.org/obo/IAO_0000301 citation http://purl.obolibrary.org/obo/IAO_0000300 textual entity a textual entity intended to identify a particular publication http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/BFO_0000019 quality A quality which inheres in an process. http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a biological context. http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/BFO_0000019 quality A quality which inheres in a continuant. http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_33832 organic cyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. http://purl.obolibrary.org/obo/IAO_0000305 document title http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that names a document http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/CHEBI_24651 hydroxides http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). http://purl.obolibrary.org/obo/PATO_0001309 duration http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. http://purl.obolibrary.org/obo/MONDO_0005311 atherosclerosis http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/IAO_0000306 table http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions http://purl.obolibrary.org/obo/CHEBI_24835 inorganic molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity that contains no carbon. http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/PATO_0001393 euploid http://purl.obolibrary.org/obo/PATO_0001374 ploidy A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity having a net electric charge. http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/IAO_0000308 figure http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/IAO_0000309 diagram http://purl.obolibrary.org/obo/IAO_0000308 figure A figure that expresses one or more propositions http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/CHEBI_25741 oxide http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity An oxide is a chemical compound of oxygen with other chemical elements. http://purl.obolibrary.org/obo/MONDO_0005336 myopathy http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/PATO_0001397 cellular potency http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/CHEBI_26214 porphyrins http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/IAO_0000310 document http://purl.obolibrary.org/obo/IAO_0000030 information content entity A collection of information content entities intended to be understood together as a whole http://purl.obolibrary.org/obo/IAO_0000415 hypothesis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses an assertion that is intended to be tested. http://purl.obolibrary.org/obo/PATO_0001400 unipotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to produce only one differentiated cell type. http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Inflammation of a specific segment of glomeruli within the kidney. http://purl.obolibrary.org/obo/CHEBI_26764 steroid hormone http://purl.obolibrary.org/obo/CHEBI_35341 steroid Any steroid that acts as hormone. http://purl.obolibrary.org/obo/CHEBI_26932 tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/MONDO_0019065 amyloidosis (disease) http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/CHEBI_27638 cobalt atom http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen A cobalt group element atom that has atomic number 27. http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum A scalar measurement datum that is the result of measuring a temporal interval http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CHEBI_33232 application http://purl.obolibrary.org/obo/CHEBI_50906 role Intended use of the molecular entity or part thereof by humans. http://purl.obolibrary.org/obo/MONDO_0019105 renal nutcracker syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. http://purl.obolibrary.org/obo/PATO_0001401 oligopotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/CHEBI_33240 coordination entity http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/BFO_0000040 material entity A chemical entity constituting the smallest component of an element having the chemical properties of the element. http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is used as directive to deliver something to a person, or organization http://purl.obolibrary.org/obo/MONDO_0005365 hearing loss disorder http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/CHEBI_33253 nucleon http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle Heavy nuclear particle: proton or neutron. http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/PATO_0001402 multipotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to form multiple differentiated cell types. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/CHEBI_33285 heteroorganic entity http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/IAO_0000572 documenting http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a document is created or added to by including the specified input in it. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0019124 microscopic polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/CHEBI_33302 pnictogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity A p-block molecular entity containing any pnictogen. http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/IAO_0000590 written name http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that denotes a particular in reality. http://purl.obolibrary.org/obo/PATO_0001405 anucleate http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom Any p-block element belonging to the group 16 family of the periodic table. http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/BFO_0000015 process A process that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/PATO_0001407 mononucleate http://purl.obolibrary.org/obo/PATO_0002505 nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/MONDO_0019125 relapsing polychondritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any p-block molecular entity containing a chalcogen. http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/BFO_0000040 material entity Is a material entity that is created or changed during material processing. http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/MONDO_0019172 aniridia http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). http://purl.obolibrary.org/obo/CHEBI_33318 main group element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A none disease characterized by death of bone tissue due to a lack of blood supply. http://purl.obolibrary.org/obo/PATO_0001447 calcified http://purl.obolibrary.org/obo/PATO_0000025 composition A composition quality inhering in an bearer by virtue of the bearer's being encrusted or impregnated with calcium carbonate (CHEBI:3311). http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OBI_0000066 investigation http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. http://purl.obolibrary.org/obo/PATO_0001473 duplicated http://purl.obolibrary.org/obo/PATO_0000470 increased amount A quality inhering in a bearer by virtue of the bearer's being present in two copies. http://purl.obolibrary.org/obo/MONDO_0005381 bone disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Diseases of bones. http://purl.obolibrary.org/obo/OBI_0000067 evaluant role http://purl.obolibrary.org/obo/BFO_0000023 role a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. http://purl.obolibrary.org/obo/OBI_0000075 diagnosis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/PATO_0001509 functionality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of a single physical entity that arises by virtue of whether the bearer exhibits the ability to perform a regular function(s). http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/CHEBI_33318 main group element atom Any main group element atom belonging to the p-block of the periodic table. http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/MONDO_0005387 primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/PATO_0001510 functional http://purl.obolibrary.org/obo/PATO_0001509 functionality A functionality quality held by the bearer when the latter is able to perform a regular function(s). http://purl.obolibrary.org/obo/PATO_0001511 non-functional http://purl.obolibrary.org/obo/PATO_0001509 functionality A disfunctional quality held by the bearer when the latter is unable to perform a regular function(s). http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/PATO_0001555 has number of http://purl.obolibrary.org/obo/PATO_0001241 physical object quality The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/CHEBI_33598 carbocyclic compound http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. http://purl.obolibrary.org/obo/OBI_0000079 culture medium http://purl.obolibrary.org/obo/OBI_0000047 processed material a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/OBI_0000097 participant under investigation role http://purl.obolibrary.org/obo/BFO_0000023 role A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. http://purl.obolibrary.org/obo/PATO_0001558 lacking processual parts http://purl.obolibrary.org/obo/PATO_0001564 extra or missing processual parts A quality of a process inhering in a bearer by virtue of the bearer's lacking a processual part as specified by the additional entity. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/OBI_0000112 specimen role http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/MONDO_0005442 type 1 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity A main group molecular entity that contains one or more atoms of a p-block element. http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. http://purl.obolibrary.org/obo/OBI_0000181 population http://purl.obolibrary.org/obo/BFO_0000040 material entity a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. http://purl.obolibrary.org/obo/PATO_0001564 extra or missing processual parts http://purl.obolibrary.org/obo/PATO_0001236 process quality A quality of a process inhering in a bearer by virtue of the bearer's processual parts. http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/BFO_0000040 material entity An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. http://purl.obolibrary.org/obo/CHEBI_33832 organic cyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. http://purl.obolibrary.org/obo/MONDO_0005443 type 2 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/CHEBI_33913 corrinoid http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/OBI_0000272 protocol http://purl.obolibrary.org/obo/IAO_0000104 plan specification A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the adrenal gland. http://purl.obolibrary.org/obo/PATO_0001571 dilated http://purl.obolibrary.org/obo/PATO_0000586 increased size A size quality inhering in a bearer by virtue of the bearer's being made wider or larger in all dimensions. http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A disease involving the bone development. http://purl.obolibrary.org/obo/PATO_0001576 increased pressure http://purl.obolibrary.org/obo/PATO_0001025 pressure A pressure which is relatively high. http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/CHEBI_33937 macronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. http://purl.obolibrary.org/obo/OBI_0000274 adding a material entity into a target http://purl.obolibrary.org/obo/OBI_0000652 material combination is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis Changes in the organism associated with senescence, occurring at an accelerated rate. http://purl.obolibrary.org/obo/MONDO_0005500 congenital disorder of glycosylation type I http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/OBI_0000275 analyte role http://purl.obolibrary.org/obo/OBI_0002444 measurand role A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. http://purl.obolibrary.org/obo/PATO_0001579 contractility http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that is the ability to contract or shrink. http://purl.obolibrary.org/obo/CHEBI_35406 oxoanion http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/PATO_0001599 rotated http://purl.obolibrary.org/obo/PATO_0000614 oriented An oriented quality inhering in a bearer by virtue of the bearer's being relocated around an axis. http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/MONDO_0005501 congenital disorder of glycosylation type II http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. http://purl.obolibrary.org/obo/OBI_0000319 material to be added role http://purl.obolibrary.org/obo/BFO_0000023 role material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process http://purl.obolibrary.org/obo/OBI_0000338 drawing a conclusion based on data http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/CHEBI_35992 penams http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://purl.obolibrary.org/obo/PATO_0001623 atrophied http://purl.obolibrary.org/obo/PATO_0000587 decreased size A size quality inhering in a bearer by virtue of a part or parts of the bearer's being decreased in size due to reduction in tissue mass through wasting. http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/MONDO_0005503 developmental disorder of mental health http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. http://purl.obolibrary.org/obo/MONDO_0005510 hydronephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. http://purl.obolibrary.org/obo/OBI_0000339 planning http://purl.obolibrary.org/obo/BFO_0000015 process a process of creating or modifying a plan specification http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/PATO_0001624 decreased functionality http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A functionality quality held by the bearer when the latter exhibits decreased ability to perform a regular function(s). http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity Any molecular entity consisting of more than one atom. http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/PATO_0001673 cystic http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities Structure quality that is the presence of at least one sac-like closed membranous structure containing one or more liquid or solid organism substances. http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). http://purl.obolibrary.org/obo/MONDO_0005516 osteochondrodysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A term referring to disorders characterized by abnormalities in the development of bones and cartilage. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity An ion consisting of more than one atom. http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/OBI_0000355 hypothesis driven investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation with the goal to test one or more hypothesis http://purl.obolibrary.org/obo/PATO_0001690 contractile http://purl.obolibrary.org/obo/PATO_0001579 contractility A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/CHEBI_24870 ion A monoatomic or polyatomic species having one or more elementary charges of the proton. http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/OBI_0000356 hypothesis generating investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis http://purl.obolibrary.org/obo/PATO_0001847 constricted http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's being drawn together, compressed or squeezed physically. http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. http://purl.obolibrary.org/obo/MONDO_0005528 inborn vitamin metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/PATO_0001857 concave http://purl.obolibrary.org/obo/PATO_0002005 concavity A shape quality in a bearer by virtue of the bearer's curving inward. http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/PATO_0001863 chronic http://purl.obolibrary.org/obo/PATO_0001309 duration A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. http://purl.obolibrary.org/obo/OBI_0000383 transfer function http://purl.obolibrary.org/obo/BFO_0000034 function A transfer function is a function to displace a material from one location to another. http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity A molecular entity consisting of two or more chemical elements. http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/PATO_0001873 cylindrical http://purl.obolibrary.org/obo/PATO_0002007 convex 3-D shape A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group http://purl.obolibrary.org/obo/CHEBI_22221 acyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/OBI_0000399 solid support function http://purl.obolibrary.org/obo/BFO_0000034 function A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/PATO_0001874 discoid http://purl.obolibrary.org/obo/PATO_0001873 cylindrical A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). http://purl.obolibrary.org/obo/MONDO_0005552 ocular vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder that is caused by pathologic changes in the ocular vasculature. http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. http://purl.obolibrary.org/obo/CHEBI_39141 Bronsted acid http://purl.obolibrary.org/obo/CHEBI_37527 acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). http://purl.obolibrary.org/obo/MONDO_0005556 lupus nephritis http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis Glomerulonephritis in the context of systemic lupus erythematosus. http://purl.obolibrary.org/obo/OBI_0000434 adding material objective http://purl.obolibrary.org/obo/OBI_0000686 material combination objective is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/PATO_0001879 U-shaped http://purl.obolibrary.org/obo/PATO_0002008 concave 3-D shape A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter U. http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex http://purl.obolibrary.org/obo/PATO_0000047 biological sex An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics. http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid http://purl.obolibrary.org/obo/CHEBI_35341 steroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. http://purl.obolibrary.org/obo/OBI_0000436 needle http://purl.obolibrary.org/obo/OBI_0000968 device A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/MONDO_0019563 CREST syndrome http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/PATO_0001979 lobed http://purl.obolibrary.org/obo/PATO_0000052 shape A shape quality inhering in a bearer by virtue of the bearer's being partly divided into a determinate number of regions. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/CHEBI_50906 role http://purl.obolibrary.org/obo/PATO_0000001 quality A role is particular behaviour which a material entity may exhibit. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/OBI_0000437 analyte measurement objective http://purl.obolibrary.org/obo/OBI_0000441 assay objective an assay objective to determine the presence or concentration of an analyte in the evaluant http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease A disease involving the ovary. http://purl.obolibrary.org/obo/OBI_0000441 assay objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/CHEBI_39142 Bronsted base http://purl.obolibrary.org/obo/CHEBI_22695 base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. http://purl.obolibrary.org/obo/PATO_0001987 saccular http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/OBI_0000443 analyte assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/OBI_0000444 target of material addition role http://purl.obolibrary.org/obo/BFO_0000023 role target of material addition role is a role realized by an entity into which a material is added in a material addition process http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/OBI_0000453 measure function http://purl.obolibrary.org/obo/BFO_0000034 function Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/OBI_0000457 manufacturing http://purl.obolibrary.org/obo/OBI_0000094 material processing A planned process with the objective to produce a processed material which will have a function for future use. http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/OBI_0000458 manufacturing objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is the objective to manufacture a material of a certain function (device) http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base http://purl.obolibrary.org/obo/CHEBI_22695 base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. http://purl.obolibrary.org/obo/OBI_0000471 study design execution http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that carries out a study design http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/MONDO_0005560 brain disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disease affecting the brain or part of the brain. http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/PATO_0001992 cellularity http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/OBI_0000571 manufacturer role http://purl.obolibrary.org/obo/BFO_0000023 role Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/MONDO_0005564 embryonal neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/OBI_0000639 material separation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to transform a material entity into spatially separated components. http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator http://purl.obolibrary.org/obo/CHEBI_90710 receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/PATO_0001993 multicellular http://purl.obolibrary.org/obo/PATO_0001992 cellularity A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. http://purl.obolibrary.org/obo/OBI_0000652 material combination http://purl.obolibrary.org/obo/OBI_0000094 material processing is a material processing with the objective to combine two or more material entities as input into a single material entity as output. http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A role played by the molecular entity or part thereof which causes the development of a pathological process. http://purl.obolibrary.org/obo/MONDO_0005568 cholesterol embolism http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/PATO_0001997 decreased amount http://purl.obolibrary.org/obo/PATO_0002301 decreased quality An amount which is relatively low. http://purl.obolibrary.org/obo/OBI_0000671 sample from organism http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism a material obtained from an organism in order to be a representative of the whole http://purl.obolibrary.org/obo/CHEBI_52396 alpha-oxyketone http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. http://purl.obolibrary.org/obo/MONDO_0005569 cartilage disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/MONDO_0019730 light chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/PATO_0001999 lacks parts or has fewer parts of type http://purl.obolibrary.org/obo/PATO_0002083 altered number of The bearer of this quality has_part < n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. This case includes the limit case, where the bearer lacks all parts of the specified type. http://purl.obolibrary.org/obo/CHEBI_90710 receptor modulator http://purl.obolibrary.org/obo/CHEBI_23888 drug A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the hematopoietic system. http://purl.obolibrary.org/obo/OBI_0000678 portioning objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/OBI_0000681 separation into different composition objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). http://purl.obolibrary.org/obo/MONDO_0019734 juvenile polymyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. http://purl.obolibrary.org/obo/MONDO_0005578 arthritic joint disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. http://purl.obolibrary.org/obo/PR_000014841 sonic hedgehog protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SHH gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/PATO_0002000 lacks all parts of type http://purl.obolibrary.org/obo/PATO_0001999 lacks parts or has fewer parts of type A quality of physical entities inhering in a bearer by virtue of the bearer's lacking a physical part as specified by the additional entity. http://purl.obolibrary.org/obo/PR_000015214 sodium/hydrogen exchanger 3 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human SLC9A3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/OBI_0000684 specimen collection objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification A objective specification to obtain a material entity for potential use as an input during an investigation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. http://purl.obolibrary.org/obo/MONDO_0005597 cystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/PR_000016043 T-cell acute lymphocytic leukemia protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TAL1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/OBI_0000686 material combination objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to obtain an output material that contains several input materials. http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/PATO_0002005 concavity http://purl.obolibrary.org/obo/PATO_0000052 shape Surface shape that refers to the inward or outward curvature of the surface. http://purl.obolibrary.org/obo/PR_000016276 trefoil factor 3 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human TFF3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma http://purl.obolibrary.org/obo/MONDO_0002363 papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OBI_0000725 host role http://purl.obolibrary.org/obo/BFO_0000023 role host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role http://purl.obolibrary.org/obo/PR_000016353 metalloproteinase inhibitor 2 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human TIMP2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/PATO_0002006 2-D shape http://purl.obolibrary.org/obo/PATO_0000052 shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. http://purl.obolibrary.org/obo/MONDO_0005613 mesonephric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OBI_0000740 material sample role http://purl.obolibrary.org/obo/OBI_0000112 specimen role A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. http://purl.obolibrary.org/obo/PR_000016401 transmembrane emp24 domain-containing protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TMED1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0019759 epispadias (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. http://purl.obolibrary.org/obo/PATO_0002007 convex 3-D shape http://purl.obolibrary.org/obo/PATO_0002266 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/PR_000017298 vimentin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human VIM gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OBI_0000806 material maintenance objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification An objective specification maintains some or all of the qualities of a material over time. http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. http://purl.obolibrary.org/obo/PATO_0002008 concave 3-D shape http://purl.obolibrary.org/obo/PATO_0002266 3-D shape A complete three dimensional shape in which there is a line connecting pair of points on the object that lies outside the object. Or: a shape with cavities. Contrast: concave. http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://purl.obolibrary.org/obo/OBI_0000810 informed consent process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. http://purl.obolibrary.org/obo/PR_000018335 T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that has had the signal peptide removed. http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/PATO_0002009 branchiness http://purl.obolibrary.org/obo/PATO_0000052 shape A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/OBI_0000832 measurement device http://purl.obolibrary.org/obo/OBI_0000968 device A device in which a measure function inheres. http://purl.obolibrary.org/obo/MONDO_0005798 HIV-associated nephropathy http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. http://purl.obolibrary.org/obo/PR_000018337 T-cell surface glycoprotein CD8 beta chain, signal peptide removed form http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that has had the signal peptide removed. http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. http://purl.obolibrary.org/obo/OBI_0000835 manufacturer http://purl.obolibrary.org/obo/BFO_0000040 material entity A person or organization that has a manufacturer role. http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease A disease involving the lymphatic part of lymphoid system. http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/PR_000018880 acrosin proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product An acrosin that has been processed by proteolytic cleavage. http://purl.obolibrary.org/obo/PATO_0002011 neoplastic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/MONDO_0005845 meningoencephalitis http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. http://purl.obolibrary.org/obo/OBI_0000838 material maintenance http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to maintain some or all of the characteristics of an input material over time. http://purl.obolibrary.org/obo/MONDO_0019991 immunotactoid glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/PR_000019379 clusterin proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product A clusterin that has been processed by proteolytic cleavage. http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/OBI_0000867 establishing cancer cell line http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. http://purl.obolibrary.org/obo/PR_000019534 cystatin-C, signal peptide removed form http://purl.obolibrary.org/obo/PR_000005965 cystatin-C A cystatin-C that has had the signal peptide removed. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). http://purl.obolibrary.org/obo/PATO_0002039 biconcave http://purl.obolibrary.org/obo/PATO_0001857 concave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/OBI_0000941 service consumer role http://purl.obolibrary.org/obo/BFO_0000023 role a role which inheres in a person who uses a service http://purl.obolibrary.org/obo/MONDO_0005854 mixed connective tissue disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/PR_O60896 receptor activity-modifying protein 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A receptor activity-modifying protein 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Differences of sex development in individuals with 46,XY karyotype. http://purl.obolibrary.org/obo/PATO_0002045 dendritic http://purl.obolibrary.org/obo/PATO_0000402 branched A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/PR_P00797 renin (human) http://purl.obolibrary.org/obo/PR_000013883 renin A renin that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/MONDO_0005864 muscle cancer http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/OBI_0000947 service provider role http://purl.obolibrary.org/obo/BFO_0000023 role is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. http://purl.obolibrary.org/obo/PATO_0002070 affinity http://purl.obolibrary.org/obo/PATO_0002182 molecular quality A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/PR_P01100 protein c-Fos (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein c-Fos that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0005872 nervous system cancer http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm A primary or metastatic malignant neoplasm involving the nervous system. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/OBI_0000953 processed specimen http://purl.obolibrary.org/obo/OBI_0100051 specimen A specimen that has been intentionally physically modified. http://purl.obolibrary.org/obo/MONDO_0005881 oligohydramnios (disease) http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://purl.obolibrary.org/obo/PATO_0002078 hollow http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A pro-epidermal growth factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic peripheral neuropathy. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/PATO_0002083 altered number of http://purl.obolibrary.org/obo/PATO_0001555 has number of Having extra or fewer parts. http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder A disease involving the placenta. http://purl.obolibrary.org/obo/OBI_0000973 sequence data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0005938 renal tuberculosis http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis Infection of the kidney due to mycobacteria. http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Macular dystrophy that is related to a change in a gene. http://purl.obolibrary.org/obo/PR_P01241 somatotropin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A somatotropin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/PATO_0002089 polycystic http://purl.obolibrary.org/obo/PATO_0001673 cystic A structure quality inhering in a bearer by virtue of the bearer's body containing more than one cyst - formations of sac-like closed membranous structures not associated with neoplasia. http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/OBI_0000984 dose http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. http://purl.obolibrary.org/obo/MONDO_0005941 retroperitoneal cancer http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. http://purl.obolibrary.org/obo/PATO_0002092 anaplastic http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. http://purl.obolibrary.org/obo/OBI_0001010 nucleic acid extract http://purl.obolibrary.org/obo/OBI_0000953 processed specimen An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/MONDO_0006022 acidosis disorder http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. http://purl.obolibrary.org/obo/OBI_0001108 nucleic acid sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of nucleotides in nucleic acid sequences. http://purl.obolibrary.org/obo/PR_P01589 interleukin-2 receptor subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-2 receptor subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease Autosomal recessive form of disease. http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. http://purl.obolibrary.org/obo/OBI_0001137 protein sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of amino acids in protein sequences. http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urinary bladder. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/OBI_0001151 genetically modified material http://purl.obolibrary.org/obo/OBI_0000047 processed material a material entity, organism or cell, that is the output of a genetic transformation process. http://purl.obolibrary.org/obo/MONDO_0006032 cystitis http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease Inflammation of the urinary bladder. http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/PATO_0002094 basophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/OBI_0001153 genetic transformation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective a material transformation objective aims to create genetically modified organism or cell http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/PATO_0002096 neoplastic, non-malignant http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/PR_P02753 retinol-binding protein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinol-binding protein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/MONDO_0006044 nephrosclerosis http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/PATO_0002097 neoplastic, malignant http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. http://purl.obolibrary.org/obo/OBI_0001173 service http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/MONDO_0006053 renal leiomyoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A leiomyoma that involves the kidney. http://purl.obolibrary.org/obo/PR_P02778 C-X-C motif chemokine 10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-X-C motif chemokine 10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/PATO_0002124 laminar http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service http://purl.obolibrary.org/obo/OBI_0001528 material service A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/PR_P02787 serotransferrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A serotransferrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PATO_0002129 neoplastic, invasive http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. http://purl.obolibrary.org/obo/MONDO_0006106 benign smooth muscle neoplasm http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor A benign mesenchymal neoplasm arising from smooth muscle tissue. http://purl.obolibrary.org/obo/OBI_0001528 material service http://purl.obolibrary.org/obo/OBI_0001173 service A service which has a material entity as specified input and/or specified output. http://purl.obolibrary.org/obo/PR_P02788 lactotransferrin (human) http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin A lactotransferrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/PATO_0002132 neoplastic, non-invasive http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/MONDO_0006174 cortisol-producing adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. http://purl.obolibrary.org/obo/OBI_0001547 material analysis service http://purl.obolibrary.org/obo/OBI_0001528 material service A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. http://purl.obolibrary.org/obo/PATO_0002181 displaced http://purl.obolibrary.org/obo/PATO_0000140 position A positional quality inhering in a bearer by virtue the bearer's being changed in position. http://purl.obolibrary.org/obo/PR_P05231 interleukin-6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/MONDO_0006209 fibroblastic neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OBI_0001557 material storage service http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. http://purl.obolibrary.org/obo/PATO_0002182 molecular quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0006260 kidney medullary carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/OBI_0001865 assay array http://purl.obolibrary.org/obo/OBI_0000968 device A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/PR_P07333 macrophage colony-stimulating factor 1 receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage colony-stimulating factor 1 receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/MONDO_0006295 malignant urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance http://purl.obolibrary.org/obo/PATO_0001018 physical quality A quality inhering in a bearer by virtue of its constitution. http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/PATO_0002226 subcylindrical http://purl.obolibrary.org/obo/PATO_0001873 cylindrical A cylindrical shape quality inhering in a bearer by virtue of the bearer's being imperfectly cylindrical or approximately cylindrical. http://purl.obolibrary.org/obo/MONDO_0006301 metanephric adenoma http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. http://purl.obolibrary.org/obo/PR_P08253 72 kDa type IV collagenase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 72 kDa type IV collagenase that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/PATO_0002266 3-D shape http://purl.obolibrary.org/obo/PATO_0000052 shape A shape that inheres in a 3 dimensional entity. http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/PR_P08575 receptor-type tyrosine-protein phosphatase C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A receptor-type tyrosine-protein phosphatase C that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/PATO_0002299 tubular http://purl.obolibrary.org/obo/PATO_0002078 hollow A cylindrical shape that is hollow. http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/OBI_0001869 Illumina BeadChip http://purl.obolibrary.org/obo/OBI_0001865 assay array An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. http://purl.obolibrary.org/obo/OBI_0001885 specimen repository organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that provides a service to store and distribute specimens http://purl.obolibrary.org/obo/OBI_0001891 sequencing facility organization http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization An organization that provides sequence determination service http://purl.obolibrary.org/obo/OBI_0001898 comment on investigation http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is about any of the aspects of an investigation worth noting http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/PR_P09237 matrilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A matrilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PATO_0002300 increased quality http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/OBI_0001900 specimen identifier assigned by specimen repository http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a specimen repository http://purl.obolibrary.org/obo/OBI_0001901 specimen identifier assigned by sequencing facility http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a sequencing facility http://purl.obolibrary.org/obo/MONDO_0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/PR_P12319 high affinity immunoglobulin epsilon receptor subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A high affinity immunoglobulin epsilon receptor subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0001904 sequencing service http://purl.obolibrary.org/obo/OBI_0001547 material analysis service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. http://purl.obolibrary.org/obo/OBI_0001906 cancer cell line http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. http://purl.obolibrary.org/obo/OBI_0001907 immortalizing cell line transformation http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture http://purl.obolibrary.org/obo/PATO_0002301 decreased quality http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OBI_0001909 conclusion based on data http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is inferred from data. http://purl.obolibrary.org/obo/OBI_0001912 cell freezing medium http://purl.obolibrary.org/obo/OBI_0000047 processed material A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. http://purl.obolibrary.org/obo/PR_P13591 neural cell adhesion molecule 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neural cell adhesion molecule 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006406 sarcomatoid carcinoma http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/PATO_0002302 decreased process quality http://purl.obolibrary.org/obo/PATO_0002301 decreased quality A quality of a process that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/OBI_0001930 categorical value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specification that is specifies one category out of a fixed number of nominal categories http://purl.obolibrary.org/obo/OBI_0001933 value specification http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that specifies a value within a classification scheme or on a quantitative scale. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/PR_P14784 interleukin-2 receptor subunit beta (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-2 receptor subunit beta that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality http://purl.obolibrary.org/obo/PATO_0002301 decreased quality A quality of an object that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/PR_P15509 granulocyte-macrophage colony-stimulating factor receptor subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A granulocyte-macrophage colony-stimulating factor receptor subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/OBI_0100051 specimen http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has the specimen role. http://purl.obolibrary.org/obo/PATO_0002304 increased process quality http://purl.obolibrary.org/obo/PATO_0002300 increased quality A quality of a process that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. http://purl.obolibrary.org/obo/OBI_0302859 genetically modified organism http://purl.obolibrary.org/obo/OBI_0100026 organism an organism that is the output of a genetic transformation process http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/PR_P15692 vascular endothelial growth factor A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor A that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0302884 extraction http://purl.obolibrary.org/obo/OBI_0600014 material component separation A material separation in which a desired component of an input material is separated from the remainder http://purl.obolibrary.org/obo/MONDO_0006432 stromal predominant kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. http://purl.obolibrary.org/obo/PATO_0002305 increased object quality http://purl.obolibrary.org/obo/PATO_0002300 increased quality A quality of an object that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P16150 leukosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A leukosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P16871 interleukin-7 receptor subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-7 receptor subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P17301 integrin alpha-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P18827 syndecan-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A syndecan-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P19320 vascular cell adhesion protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular cell adhesion protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P20333 tumor necrosis factor receptor superfamily member 1B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1B that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. http://purl.obolibrary.org/obo/PR_P20702 integrin alpha-X (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-X that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0006475 unclassified renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. http://purl.obolibrary.org/obo/OBI_0302893 storage http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability http://purl.obolibrary.org/obo/PATO_0002309 fiber shaped http://purl.obolibrary.org/obo/PATO_0002226 subcylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a by virtue of the bearer's exhibiting a consistently sized and approximately round cross-section along its length, which is many times larger than its diameter. http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/PR_P22897 macrophage mannose receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage mannose receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PATO_0002318 superelliptic http://purl.obolibrary.org/obo/PATO_0002006 2-D shape A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt http://purl.obolibrary.org/obo/PATO_0002418 acidophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for acidic dyes under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0006485 uterine carcinosarcoma http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. http://purl.obolibrary.org/obo/PATO_0002422 acinar http://purl.obolibrary.org/obo/PATO_0000141 structure Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. http://purl.obolibrary.org/obo/PATO_0002468 distensible http://purl.obolibrary.org/obo/PATO_0015008 distensibility A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. http://purl.obolibrary.org/obo/PATO_0002505 nucleated http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. http://purl.obolibrary.org/obo/PATO_0010001 disconnected http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P24821 tenascin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tenascin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. http://purl.obolibrary.org/obo/MONDO_0006496 palsy http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study http://purl.obolibrary.org/obo/PATO_0015006 polymeric http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a structure by virtue of it consisting of many of repeated, similar or identical subunits, arranged in some orderly array. http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/PATO_0015008 distensibility http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/PR_P29279 CCN family member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCN family member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disease that involves the intestine. http://purl.obolibrary.org/obo/MONDO_0006499 hamartoma (disease) http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. http://purl.obolibrary.org/obo/OBI_0600004 human subject enrollment http://purl.obolibrary.org/obo/OBI_0001928 selection A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/PO_0025131 plant anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity An anatomical entity that is or was part of a plant. http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/PR_P80188 neutrophil gelatinase-associated lipocalin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neutrophil gelatinase-associated lipocalin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/MONDO_0006504 acquired metabolic disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity which determines an environmental system. http://purl.obolibrary.org/obo/PR_Q01344 interleukin-5 receptor subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-5 receptor subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo http://purl.obolibrary.org/obo/OBI_0000011 planned process A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/NCIT_C102469 Number of Siblings http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors An individual's total number of brothers and sisters. http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/PR_Q03405 urokinase plasminogen activator surface receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A urokinase plasminogen activator surface receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0600014 material component separation http://purl.obolibrary.org/obo/OBI_0000094 material processing a material processing in which components of an input material become segregated in space http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://purl.obolibrary.org/obo/OBI_0600024 maintaining cell culture http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A planned process with the objective to keep cells alive in a defined environment outside of an organism. http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors http://purl.obolibrary.org/obo/IAO_0000030 information content entity Characteristics of a person such as education and occupation, used to describe the person's position in stratification systems, access to services, etc. http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://purl.obolibrary.org/obo/PR_Q9GZV9 fibroblast growth factor 23 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fibroblast growth factor 23 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture http://purl.obolibrary.org/obo/OBI_0000094 material processing a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/NCIT_C114935 Very Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 1500 grams. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/OBI_0600047 sequencing assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay the uses chemical or biochemical means to infer the sequence of a biomaterial http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/PR_Q9HCK4 roundabout homolog 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A roundabout homolog 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006541 epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. http://purl.obolibrary.org/obo/OBI_0666667 nucleic acid extraction http://purl.obolibrary.org/obo/OBI_0302884 extraction a material separation to recover the nucleic acid fraction of an input material http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hypoparathyroidism. http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/NCIT_C114936 Extremely Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 1000 grams. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/PR_Q9Y6Q6 tumor necrosis factor receptor superfamily member 11A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 11A that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_1110022 adaptive immune receptor http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/MONDO_0006607 sebaceous gland disease http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease A disease involving the sebaceous gland. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/OGMS_0000015 clinical history http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A series of statements representing health-relevant qualities of a patient and of a patient's family. http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/NCIT_C114937 Ultra Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 750 grams. http://purl.obolibrary.org/obo/PR_O75112 LIM domain-binding protein 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A LIM domain-binding protein 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hyperparathyroidism. http://purl.obolibrary.org/obo/OGMS_0000031 disease http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15710 LDB3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene LDB3 in human. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OGMS_0000090 treatment http://purl.obolibrary.org/obo/OGMS_0000096 health care process A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hydrocephalus that is present at birth. http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/NCIT_C117976 Ideal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A person's optimum weight as calculated by a standard methodology. http://purl.obolibrary.org/obo/MONDO_0006637 acute kidney tubular necrosis http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9845 RAMP3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAMP3 in human. http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/PR_P25024 C-X-C chemokine receptor type 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-X-C chemokine receptor type 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/PATO_0001018 physical quality A time quality inhering in a bearer by virtue of how long the bearer has existed. http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/MONDO_0006639 adrenal cortex carcinoma http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/PR_P25025 C-X-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-X-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006640 adrenal gland hyperfunction http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease Excess production of adrenal cortex hormones. http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder Genetic infertility. http://purl.obolibrary.org/obo/PATO_0000047 biological sex http://purl.obolibrary.org/obo/PATO_0001241 physical object quality 患者生理性别在特定编码体系中的代码 http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://purl.obolibrary.org/obo/MONDO_0006649 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. http://purl.obolibrary.org/obo/PR_P25063 signal transducer CD24 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A signal transducer CD24 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The first weight of a newborn obtained after birth. http://purl.obolibrary.org/obo/MONDO_0006651 anterior uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the iris and anterior chamber of the eye. http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/PR_P26010 integrin beta-7 (human) http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 An integrin beta-7 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/MONDO_0017390 methylmalonic acidemia without homocystinuria http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The weight of a subject. http://purl.obolibrary.org/obo/PATO_0000383 female http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/PATO_0000384 male http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/PR_P28907 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Any disorder of the joints. http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/NCIT_C132482 Estimated Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An approximate determination of the weight of a body. http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. http://purl.obolibrary.org/obo/PATO_0001025 pressure http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/PR_P31997 carcinoembryonic antigen-related cell adhesion molecule 8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carcinoembryonic antigen-related cell adhesion molecule 8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006820 kidney cortex necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/PATO_0001374 ploidy http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. http://purl.obolibrary.org/obo/NCIT_C135383 Age at Death http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which death occurred. http://purl.obolibrary.org/obo/MONDO_0006821 kidney papillary necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2500 CCN2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCN2 in human. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://purl.obolibrary.org/obo/PATO_0001396 cellular quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/OBI_0002555 age group inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states an age bracket which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0006832 limited scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4601 GRN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GRN in human. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://purl.obolibrary.org/obo/PATO_0001548 quality of a liquid http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). http://purl.obolibrary.org/obo/OBI_0002556 minimum age value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specifcation that specifies the youngest age when specifying an age range. http://purl.obolibrary.org/obo/MONDO_0006835 lipoid nephrosis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. http://purl.obolibrary.org/obo/PATO_0001995 organismal quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5318 TNC (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNC in human. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/OBI_0002557 maximum age value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specifcation that specifies the oldest age when specifying an age range. http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Severe hypertension that is characterized by rapid onset of extremely high blood pressure. http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/PR_000018263 amino acid chain An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease involving the mouth. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6526 LCN2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene LCN2 in human. http://purl.obolibrary.org/obo/OBI_0002558 use of medication inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a a set of medications, which, if used by an entity, makes that entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://purl.obolibrary.org/obo/PR_000001004 CD4 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. http://purl.obolibrary.org/obo/MONDO_0006873 nutritional deficiency disease http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. http://purl.obolibrary.org/obo/PR_Q6DN14 multiple C2 and transmembrane domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A multiple C2 and transmembrane domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. http://purl.obolibrary.org/obo/MONDO_0006900 perinephritis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/OBI_0002559 hospital patient inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion defines that a human being has to be a hospital patient to be suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://purl.obolibrary.org/obo/PR_000025402 T cell receptor co-receptor CD8 http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. http://purl.obolibrary.org/obo/MONDO_0006918 posterior uveitis http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26183 MCTP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MCTP1 in human. http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/UO_0000003 time unit http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label A unit which is a standard measure of the dimension in which events occur in sequence. http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). http://purl.obolibrary.org/obo/OBI_0002560 family status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more family statuses, which, if met, makes a human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0001166 nephritis Inflammation of the renal pelvis. http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://purl.obolibrary.org/obo/PR_Q8NBS3 solute carrier family 4 member 11 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A solute carrier family 4 member 11 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/VO_0000001 vaccine http://purl.obolibrary.org/obo/OBI_0000047 processed material A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/MONDO_0006939 pyelonephritis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. http://purl.obolibrary.org/obo/CHEBI_36588 cyclic pseudoketone http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. http://purl.obolibrary.org/obo/DRON_00000001 clinical drug role http://purl.obolibrary.org/obo/BFO_0000023 role the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/OBI_0002561 sex inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more sexes which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/PR_Q8NCS7 choline transporter-like protein 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A choline transporter-like protein 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://purl.obolibrary.org/obo/MONDO_0006944 renal aminoaciduria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. http://purl.obolibrary.org/obo/OGMS_0000097 health care encounter http://purl.obolibrary.org/obo/BFO_0000015 process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/MONDO_0006945 renal artery obstruction http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). http://purl.obolibrary.org/obo/OBI_0002562 country of residence inclusion criteria http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more countries of residence which, if met, makes a human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://purl.obolibrary.org/obo/OGMS_0000104 diagnostic process http://purl.obolibrary.org/obo/OGMS_0000096 health care process A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16438 SLC4A11 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC4A11 in human. http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/MONDO_0006946 renal osteodystrophy http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) Abnormalities of bone mineral metabolism associated with chronic kidney disease. http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in an entity realized by social interactions in human society. http://purl.obolibrary.org/obo/OBI_0002563 ethnicity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criteria that defines and states one or more ethnicities which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OMRSE_00000033 aggregate of organizations http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common http://purl.obolibrary.org/obo/MONDO_0006947 renovascular hypertension (disease) http://purl.obolibrary.org/obo/MONDO_0001105 renal hypertension High blood pressure secondary to renal artery stenosis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=28524 SLC44A5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC44A5 in human. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/OMRSE_00000038 legal person role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A functional anomaly of the digestive system. http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/HP_0031226 Perinephric fluid collection http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. http://purl.obolibrary.org/obo/FOODON_03400361 agency food product type http://purl.obolibrary.org/obo/FOODON_00002403 food material An agency food product type is a class of food product defined by an agency or consortium. http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm A benign or malignant myomatous neoplasm arising from smooth muscle. http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/HP_0030724 Central nervous system cyst http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality A fluid-filled sac (cyst) located within the central nervous system. http://purl.obolibrary.org/obo/GO_0140014 mitotic nuclear division http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease A disease involving the calcareous tooth. http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/MONDO_0007004 type III hypersensitivity disease http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/HP_0030760 Renal fibrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. http://purl.obolibrary.org/obo/MONDO_0007008 uremia http://purl.obolibrary.org/obo/MONDO_0001106 kidney failure A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization http://purl.obolibrary.org/obo/GO_0030030 cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/MONDO_0007022 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality An anomalous (adventitious) sound produced by the breathing process. http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://purl.obolibrary.org/obo/HP_0031266 Podocyte foot process effacement http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) http://purl.obolibrary.org/obo/MPATH_34 amyloid deposition http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Extracellular deposition of amyloid protein. http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis A condition that is characterized by degeneration of the distal phalanges. http://purl.obolibrary.org/obo/MPATH_574 nephroblastomatosis http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia Persistence of metanephrogenic blastema or its presence in the wrong place or at the wrong time. Associated with hyperplastic nephrogenic rests. http://purl.obolibrary.org/obo/HP_0410042 Abnormal liver morphology http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/NCIT_C25347 Height http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease A interstitial lung disease that occurs during childhood. http://purl.obolibrary.org/obo/MPATH_622 steatosis http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Abnormal retention of lipids within a cell. Physically apparent as lipid within liposomes of parenchymal cells. http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/NCIT_C25352 International Normalized Ratio http://purl.obolibrary.org/obo/CMO_0000035 blood measurement A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/MONDO_0021178 injury http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm (disease) that involves the thoracic segment of trunk. http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. http://purl.obolibrary.org/obo/UBERON_0035819 abdominopelvic cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/BFO_0000016 disposition A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A neoplasm (disease) that involves the uterus. http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitivity reaction disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). http://purl.obolibrary.org/obo/SO_0000280 engineered_gene http://purl.obolibrary.org/obo/SO_0000704 gene A gene that is engineered. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A neoplasm (disease) that involves the adipose tissue. http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0007191 Behcet disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/OBI_0000011 planned process medical intervention is a planned process that has the goal of diagnosing, preventing or relieving illness or injury. http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm A benign neoplasm that involves the zone of skin. http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/MONDO_0000270 lower respiratory tract disease http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A disease involving the lower respiratory tract. http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A benign neoplasm that involves the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. http://purl.obolibrary.org/obo/OAE_0000011 drug administration http://purl.obolibrary.org/obo/OAE_0000002 medical intervention a medical intervention where a patient is administered with a drug http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/MONDO_0000328 hyperphosphatemia (disease) http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease Abnormally high level of phosphate in the blood. http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein O-linked glycosylation. http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/OAE_0000027 musculoskeletal or connective tissue AE a musculoskeletal and connective tissue AE that displays an outcome of fistula, a permanent abnormal passageway between two organs in the body or between an organ and the exterior of the body. http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis A tuberculosis that occurs at body sites other than the lung. http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease that involves the renal tubule. http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/OAE_0000288 allergic brochospasm AE that requires treatment in emergency http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event a serious AE that is due to an allergic brochospasm, which causes a serious problem with breathing and requires treatment in an emergency room. http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/KTAO_0000005 AKI patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of acute kidney injury (AKI). http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/KTAO_0000006 CKD patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of chronic kidney disease (CKD). http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A disorder of the blood that is present at birth. http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/OAE_0000374 pain AE http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE a sensory capability AE that has an outcome of pain in a patient http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. http://purl.obolibrary.org/obo/MONDO_0020579 mucositis http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease Inflammation of the mucous membranes. http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/OAE_0000431 sudden infant death AE http://purl.obolibrary.org/obo/OAE_0001431 sudden death AE a sudden death AE that occurs to an infant. http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A malignant neoplasm involving the respiratory system http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4948 HLA-DRB1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HLA-DRB1 in human. http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_4030008 pronephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. http://purl.obolibrary.org/obo/MONDO_0000381 infiltrating renal pelvis transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma A infiltrating urothelial carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. http://purl.obolibrary.org/obo/HP_0034230 Inferior crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). http://purl.obolibrary.org/obo/OAE_0000622 urinary system AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event an adverse event that has an outcome of urinary system AE is a functional anomaly of any of the organs involved in the production or excretion of urine http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/HP_0034231 Sigmoid kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. http://purl.obolibrary.org/obo/HP_0034232 Unilateral lump kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the skin of body. http://purl.obolibrary.org/obo/HP_0034233 Disc kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which kidneys fuse along their medial borders. http://purl.obolibrary.org/obo/OAE_0000632 death AE http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event a serious adverse event that has an outcome of death. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/MONDO_0000384 bladder benign neoplasm http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm A benign abnormal growth of the cells that comprise the bladder. http://purl.obolibrary.org/obo/HP_0034234 L-shaped kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. http://purl.obolibrary.org/obo/MONDO_0007416 Balkan nephropathy http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. http://purl.obolibrary.org/obo/HP_0034235 Superior crossed-fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. http://purl.obolibrary.org/obo/MONDO_0017887 renal cell carcinoma associated with neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. http://purl.obolibrary.org/obo/OAE_0000637 adverse event that requires intervention to prevent permanent impairment or damage http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event a serious adverse event which is an adverse event that requires intervention to prevent permanent impairment or damage leads to suspicions that the use of a medical product may result in a condition which requires a medical or surgical intervention to preclude permanent impairment or damage to a patient. http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency (disease) http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/MONDO_0017890 tubulocystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. http://purl.obolibrary.org/obo/HP_0034239 Renal vein thrombosis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/OAE_0000839 connective tissue disorder AE http://purl.obolibrary.org/obo/OAE_0000027 musculoskeletal or connective tissue AE an adverse event that has an outcome of disease in the biological tissue that supports, binds together and protects organs http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/MONDO_0000425 X-linked disease http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease X-linked form of disease. http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. http://purl.obolibrary.org/obo/HP_0034242 Abnormal fetal genitourinary system morphology http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/MONDO_0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/OAE_0001410 soft tissue infection AE http://purl.obolibrary.org/obo/OAE_0000839 connective tissue disorder AE a connective tissue disorder AE that occurs in the non-skeletal tissue, usually subcutaneous and muscle tissue http://purl.obolibrary.org/obo/CL_4030022 renal medullary fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal medulla interstitium. http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease Autosomal dominant form of disease. http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. http://purl.obolibrary.org/obo/OAE_0001431 sudden death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has an outcome of unexpected death, 1 to 24 hours after the onset of symptoms http://purl.obolibrary.org/obo/CL_4030019 kidney connecting tubule intercalated cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/CL_4030020 kidney connecting tubule alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/CL_4030021 kidney connecting tubule beta-intercalated cell http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. http://purl.obolibrary.org/obo/OAE_0002623 initial hospitalization AE http://purl.obolibrary.org/obo/OAE_0000634 hospitalization AE a hospitalization AE that leads to an intial hospitalization. http://purl.obolibrary.org/obo/CL_4030025 renal cortical fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal cortical interstitium. http://purl.obolibrary.org/obo/CL_4030031 interstitial cell http://purl.obolibrary.org/obo/CL_0000000 cell Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/MONDO_0000462 eye adnexa disease http://purl.obolibrary.org/obo/MONDO_0002022 disease of orbital region A disease involving the ocular adnexa. http://purl.obolibrary.org/obo/OAE_0002624 prolonged hospitalization AE http://purl.obolibrary.org/obo/OAE_0000634 hospitalization AE a hospitalization AE that leads to a prolonged hospitalization. http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid Any of a class of steroid hormones that are produced in the adrenal cortex. http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome for which no cause has been identified. http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://purl.obolibrary.org/obo/CHEBI_51270 tetracenes http://purl.obolibrary.org/obo/CHEBI_51269 acenes Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic molecular entity containing a single carbon atom (C1). http://purl.obolibrary.org/obo/OAE_0002659 flank pain AE http://purl.obolibrary.org/obo/OAE_0000001 adverse event a pain AE that has marked discomfort sensation on the lateral side of the body in the region below the ribs and above the hip. http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CHEBI_75772 Saccharomyces cerevisiae metabolite http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/MONDO_0018360 neonatal lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease An impairment of the structure or function of the blood vessels which carry blood away from the heart. http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease A hardening of the kidney glomerulus caused by scarring of the blood vessels. http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/OAE_0000002 medical intervention a medical intervention that refers to any series of pre-defined steps that should be followed to achieve a desired result. http://purl.obolibrary.org/obo/CHEBI_15339 acceptor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CHEBI_16134 ammonia http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. http://purl.obolibrary.org/obo/MONDO_0000494 renal fibrosis http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/OAE_0003442 death neonatal AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has cessation of life occurring during the first 28 days of life. http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteonecrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CHEBI_16842 formaldehyde http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/MONDO_0000498 arteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MONDO_0008538 temporal arteritis An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/MONDO_0000508 syndromic intellectual disability http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease A intellectual disability that is part of a larger syndrome. http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A representation that is either the output of a clinical history taking or a physical examination or an image finding, or some combination thereof. http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/MONDO_0018448 clear cell papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. http://purl.obolibrary.org/obo/CHEBI_17891 donor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/MONDO_0000557 hereditary ataxia http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia Cerebellar ataxia that is transmitted from parent to child. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/VO_0000609 viral vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a viral disease. http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. http://purl.obolibrary.org/obo/MONDO_0018449 acquired cystic disease-associated renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disease of central nervous system http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disease of the nervous system A hypersensitivity reaction type II disease that involves the central nervous system. http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CHEBI_18154 polysaccharide http://purl.obolibrary.org/obo/CHEBI_167559 glycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disease of endocrine system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the endocrine system. http://purl.obolibrary.org/obo/MONDO_0007937 renal hypomagnesemia 2 http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering http://purl.obolibrary.org/obo/GO_0051640 organelle localization The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder Anemia, the cause of which is present at birth. http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://purl.obolibrary.org/obo/CHEBI_18248 iron atom http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/MONDO_0018463 mild phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of ear, nose and throat http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An autoimmune form of otorhinolaryngologic disease. http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/MONDO_0008054 juvenile dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. http://purl.obolibrary.org/obo/OBIB_0000076 first blood draw date http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection A date of specimen collection for the first collection of blood from a donor. http://purl.obolibrary.org/obo/CHEBI_23888 drug http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/OBIB_0000077 first tissue removed date http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection A date of specimen collection for the first collection of a tissue from a donor. http://purl.obolibrary.org/obo/MONDO_0018464 severe phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. http://purl.obolibrary.org/obo/MONDO_0000589 autoimmune disease of musculoskeletal system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the musculoskeletal system. http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disease of peripheral nervous system http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A hypersensitivity reaction type II disease that involves the peripheral nervous system. http://purl.obolibrary.org/obo/CHEBI_24433 group http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/MONDO_0008104 Noonan syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Noonan syndrome caused by mutations in the PTPN11 gene. http://purl.obolibrary.org/obo/OBIB_0000100 date of surgical removal of specimen http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection A date of specimen collection on which the surgery was performed during which the specimen was collected. http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy A cardiomyopathy that is due to abnormalities in heart muscle cells. http://purl.obolibrary.org/obo/CHEBI_24621 hormone http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/MONDO_0000601 autoimmune disease of urogenital tract http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the genitourinary system. http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/CHEBI_26188 polyketide http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/MONDO_0007443 congenital unilateral hypoplasia of depressor anguli oris http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the blood. http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. http://purl.obolibrary.org/obo/CHEBI_26348 prosthetic group http://purl.obolibrary.org/obo/CHEBI_23357 cofactor A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/MONDO_0000603 autoimmune disease of cardiovascular system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0018551 patent urachus (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitivity reaction disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/MONDO_0018552 urachal sinus http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://purl.obolibrary.org/obo/MONDO_0008263 polycystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension An instance of essential hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. http://purl.obolibrary.org/obo/MONDO_0018553 urachal diverticulum http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. http://purl.obolibrary.org/obo/CHEBI_28616 carbamic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. http://purl.obolibrary.org/obo/MONDO_0007954 May-Hegglin anomaly http://purl.obolibrary.org/obo/MONDO_0015912 MYH-9 related disease An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A benign neoplasm that involves the musculoskeletal system. http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/MONDO_0008073 familial juvenile hyperuricemic nephropathy type 1 http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm involving the musculoskeletal system http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/MONDO_0018738 benign metanephric tumour http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign neoplasm that involves the metanephros. http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. http://purl.obolibrary.org/obo/CHEBI_32600 tetracene http://purl.obolibrary.org/obo/CHEBI_35297 acene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A benign neoplasm that involves the integumental system. http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. http://purl.obolibrary.org/obo/MONDO_0008369 proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0000654 benign connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type A hemorrhagic disorder due to a platelet anomaly which occurs from birth. http://purl.obolibrary.org/obo/CHEBI_33252 atomic nucleus http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. http://purl.obolibrary.org/obo/MONDO_0008393 Rubinstein-Taybi syndrome due to CREBBP mutations http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. http://purl.obolibrary.org/obo/MONDO_0019167 immunoglobulin a vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. http://purl.obolibrary.org/obo/CHEBI_33284 nutrient http://purl.obolibrary.org/obo/CHEBI_78295 food component A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis (disease) http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. http://purl.obolibrary.org/obo/MONDO_0008538 temporal arteritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/CHEBI_33696 nucleic acid http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An autoimmune form of peripheral neuropathy. http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia-nephritis-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0008558 autoimmune thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/MONDO_0000831 thrombotic disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0008564 DiGeorge syndrome http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. http://purl.obolibrary.org/obo/MONDO_0008612 tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the nail. http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/MONDO_0019340 scleroderma (disease) http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). http://purl.obolibrary.org/obo/CHEBI_35107 azane http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A bone disease that results in formation or resorption abnormalities located in bone. http://purl.obolibrary.org/obo/MONDO_0008585 HELLP syndrome http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL/vater association http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/MONDO_0019355 adult-onset Still disease http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug Any antimicrobial drug which is used to treat or prevent protozoal infections. http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0019396 collagen type III glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Bone loss due to osteoclastic activity. http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. http://purl.obolibrary.org/obo/MONDO_0008822 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/CHEBI_36080 protein http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. http://purl.obolibrary.org/obo/MONDO_0008833 renal-hepatic-pancreatic dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. http://purl.obolibrary.org/obo/MONDO_0019536 typical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://purl.obolibrary.org/obo/MONDO_0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. http://purl.obolibrary.org/obo/MONDO_0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/MONDO_0000888 gastrointestinal mucositis http://purl.obolibrary.org/obo/MONDO_0020579 mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. http://purl.obolibrary.org/obo/CHEBI_37527 acid http://purl.obolibrary.org/obo/CHEBI_51086 chemical role An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://purl.obolibrary.org/obo/MONDO_0008644 velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. http://purl.obolibrary.org/obo/MONDO_0000909 Bartter disease type 4B http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxin http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). http://purl.obolibrary.org/obo/MONDO_0000916 intestinal infectious disease http://purl.obolibrary.org/obo/MONDO_0002269 gastroenteritis An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. http://purl.obolibrary.org/obo/MONDO_0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. http://purl.obolibrary.org/obo/CHEBI_51086 chemical role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/MONDO_0000942 corneal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/CHEBI_59740 nucleophilic reagent http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/MONDO_0000968 kidney lipoma http://purl.obolibrary.org/obo/MONDO_0005106 lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. http://purl.obolibrary.org/obo/CHEBI_60242 monovalent inorganic cation http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. http://purl.obolibrary.org/obo/MONDO_0008719 acrorenal syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome Autosomal recessive form of acrorenal syndrome. http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/MONDO_0000980 aortic atherosclerosis (disease) http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease A atherosclerosis that involves the aorta. http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/MONDO_0000984 thalassemia http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0015087 autosomal dominant complex spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia Autosomal dominant form of complex hereditary spastic paraplegia. http://purl.obolibrary.org/obo/MONDO_0008749 pseudohypoparathyroidism type 2 http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. http://purl.obolibrary.org/obo/MONDO_0015134 constitutional neutropenia http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. http://purl.obolibrary.org/obo/MONDO_0015144 brain inflammatory disease http://purl.obolibrary.org/obo/MONDO_0005560 brain disease An inflammatory disease involving a pathogenic inflammatory response in the brain. http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder Either an isolated neoplasm or a syndrome with neoplasm as a major feature. http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of glycosylation. http://purl.obolibrary.org/obo/MONDO_0001071 intellectual disability http://purl.obolibrary.org/obo/MONDO_0005503 developmental disorder of mental health A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0001072 mild pre-eclampsia http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/CHEBI_77941 EC 3.5.1.4 (amidase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/ENVO_01001434 anthropogenic ecosystem conversion process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/MONDO_0015208 syndromic esophageal malformation http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation A esophageal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/GO_0140352 export from cell http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. http://purl.obolibrary.org/obo/MONDO_0015212 syndromic intestinal malformation http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation A intestinal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://purl.obolibrary.org/obo/MONDO_0001085 interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0001166 nephritis Inflammation of the renal tubules and supporting tissues of the kidney. http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. http://purl.obolibrary.org/obo/MF_0000073 intentionality http://purl.obolibrary.org/obo/MF_0000075 mental quality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/MONDO_0001105 renal hypertension http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-) http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride A divalent inorganic anion resulting from the removal of two protons from ammonia. http://purl.obolibrary.org/obo/MF_0000074 bodily quality http://purl.obolibrary.org/obo/BFO_0000019 quality A bodily quality is a quality that inheres in some extended organism. http://purl.obolibrary.org/obo/MONDO_0001106 kidney failure http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis A craniosynostosis that is part of a larger syndrome. http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/MF_0000075 mental quality http://purl.obolibrary.org/obo/MF_0000074 bodily quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/MONDO_0015358 hereditary motor and sensory neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis http://purl.obolibrary.org/obo/MONDO_0006939 pyelonephritis Persistent pyelonephritis. http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/MONDO_0001134 essential hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Hypertension that presents without an identifiable cause. http://purl.obolibrary.org/obo/MONDO_0015369 Joubert syndrome and related disorders http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. http://purl.obolibrary.org/obo/CHEBI_33658 arene http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). http://purl.obolibrary.org/obo/CHEBI_50313 onium cation http://purl.obolibrary.org/obo/CHEBI_50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/MONDO_0001150 hydrocephalus http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. http://purl.obolibrary.org/obo/ECTO_9000266 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/MONDO_0008831 asphyxiating thoracic dystrophy 1 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy associated with variation in the region 15q13. http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/ECTO_9000364 tetracycline exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to tetracycline. http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/MONDO_0015496 macroglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism (disease) http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. http://purl.obolibrary.org/obo/MONDO_0001166 nephritis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Inflammation of renal tissue. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/ECTO_9001334 primary alcohol exposure http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure An exposure to primary alcohol. http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. http://purl.obolibrary.org/obo/MONDO_0015620 syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0001176 lens disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A disease involving the lens of camera-type eye. http://purl.obolibrary.org/obo/MONDO_0008854 Bardet-Biedl syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CL_0000001 primary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. http://purl.obolibrary.org/obo/MONDO_0001184 chronic rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis Chronic form of rapidly progressive glomerulonephritis. http://purl.obolibrary.org/obo/MONDO_0008889 thromboangiitis obliterans http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/MONDO_0015790 central diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/MONDO_0001198 acquired thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0002049 thrombocytopenia An instance of thrombocytopenia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm A malignant neoplasm involving the lung. http://purl.obolibrary.org/obo/MONDO_0015827 distal renal tubular acidosis (disease) http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). http://purl.obolibrary.org/obo/CL_0000007 early embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/MONDO_0001200 secondary hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder High blood pressure caused by an underlying medical condition. http://purl.obolibrary.org/obo/HP_0033727 Diffuse lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0001220 hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CL_0000010 cultured cell http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro A cell in vitro that is or has been maintained or propagated as part of a cell culture. http://purl.obolibrary.org/obo/CL_0000034 stem cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/MONDO_0009041 craniosynostosis-mental retardation-clefting syndrome http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder A inherited lipid metabolism disorder that is part of a larger syndrome. http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/HP_0033728 Mesangial proliferative lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A disease involving the parathyroid gland. http://purl.obolibrary.org/obo/MONDO_0015924 pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis An inflammatory process that affects the choroid. http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/HP_0033729 Minimal mesangial lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease An autoimmune form of systemic disease. http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Paralysis of the oculomotor nerve. http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://purl.obolibrary.org/obo/CL_0000039 germ line cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://purl.obolibrary.org/obo/HP_0033730 Membranous lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis http://purl.obolibrary.org/obo/HP_0033731 Focal lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/MONDO_0009066 juvenile nephropathic cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. http://purl.obolibrary.org/obo/CL_0000040 monoblast http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/HP_0033732 Advanced sclerotic lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. http://purl.obolibrary.org/obo/MONDO_0001411 synostosis http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/MONDO_0016072 anomaly of puberty or/and menstrual cycle of genetic origin http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0033759 Impaired renal tubular reabsorption of magnesium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of magnesium. http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/HP_0033761 Xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. http://purl.obolibrary.org/obo/MONDO_0016168 cryopyrin-associated periodic syndrome http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). http://purl.obolibrary.org/obo/MONDO_0001416 female reproductive organ cancer http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. http://purl.obolibrary.org/obo/HP_0033774 Impaired renal tubular reabsorption of uric acid http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of uric acid. http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/MONDO_0001475 neutropenia http://purl.obolibrary.org/obo/MONDO_0001609 agranulocytosis A decrease in the number of neutrophils found in the blood. http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology An anomalous structure of an artery located in the kidney. http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://purl.obolibrary.org/obo/MONDO_0016631 hemorrhagic disorder due to an acquired platelet anomaly http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly A hemorrhagic disorder due to a platelet anomaly which develops after birth. http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/MONDO_0001476 coloboma http://purl.obolibrary.org/obo/MONDO_0005328 eye disease An abnormality in which a part of a structure in one or both eyes is missing. http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Abnormal structure of a vein located inside the kidney parenchyma. http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell A stem cell from which all cells of the body can form. http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/MONDO_0009215 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma http://purl.obolibrary.org/obo/MONDO_0005941 retroperitoneal cancer A carcinoma that arises from epithelial cells of the retroperitoneal space. http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell with a limited number of potential fates. http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). http://purl.obolibrary.org/obo/MONDO_0016906 partial deletion of the long arm of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0001517 dysentery http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/MONDO_0016907 partial deletion of the long arm of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). http://purl.obolibrary.org/obo/CL_0000056 myoblast http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/CL_0000057 fibroblast http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://purl.obolibrary.org/obo/HP_0033856 Cholesterol emboli within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/MONDO_0017687 disorder of neutral amino acid transport http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/HP_0033857 Intraluminal thrombi within interlobular veins http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/CL_0000064 ciliated cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that has a filiform extrusion of the cell surface. http://purl.obolibrary.org/obo/MONDO_0017740 disorder of protein N-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein N-linked glycosylation. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/HP_0033858 Organized thrombi within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/HP_4000010 Impaired renal tubular reabsorption of bicarbonate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of bicarbonate. http://purl.obolibrary.org/obo/CL_0000067 ciliated epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/OPMI_0000585 payer plan period http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A period time of the payment that is covered by a payer plan for a person. http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/CL_0000068 duct epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that is part of a duct. http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with the payment process defined in a payer plan http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. http://purl.obolibrary.org/obo/OPMI_0000586 payer plan period start date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period starts. http://purl.obolibrary.org/obo/MONDO_0017991 Takayasu arteritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/OPMI_0000587 payer plan period end date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period ends. http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/MONDO_0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency. http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://purl.obolibrary.org/obo/MONDO_0001556 urethral obstruction (disease) http://purl.obolibrary.org/obo/MONDO_0004184 urethral disease Blockage of the normal flow of urine in the urethra. http://purl.obolibrary.org/obo/CL_4030012 kidney loop of Henle short descending thin limb epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the short loop (cortical) nephron limited to the outer medulla (mainly inner strip). It is known in some mammalian species that the short descending limb of the loop of Henle selectively expresses the serine protease Corin, the homeobox TF Uncx, and the urea channel Slc14a2. http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/CL_4030014 kidney loop of Henle long descending thin limb inner medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the inner medulla. It is known in some mammalian species that the long descending limb of the loop of Henle in the inner medulla selectively expresses the nuclear receptor Nr2e3, the Ig kappa chain Igkc, and the secreted protein dermokine (Dmkn). SLC14A2, which expresses a urea transporter, is also expressed in the inner medulla. http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence http://purl.obolibrary.org/obo/MONDO_0005881 oligohydramnios (disease) A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease Abnormally high concentration of calcium in the peripheral blood. http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease An autoimmune form of thrombocytopenia. http://purl.obolibrary.org/obo/MONDO_0009303 anti-glomerular basement membrane disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/MONDO_0001567 nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma http://purl.obolibrary.org/obo/MONDO_0006106 benign smooth muscle neoplasm A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/CL_4030013 kidney loop of Henle long descending thin limb outer medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the outer medulla (inner stripe). It is known in some mammalian species that the long descending limb of the loop of Henle in the outer medulla selectively expresses the secreted activin-antagonist protein follistatin (Fst), the GPI-linked adhesion protein Cdh13, and the protein kinase Stk32a. http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/MONDO_0001609 agranulocytosis http://purl.obolibrary.org/obo/MONDO_0003785 leukopenia A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://purl.obolibrary.org/obo/MONDO_0009424 Bartter disease type 2 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/HP_0034836 Cystic nephroma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A benign cystic neoplasm of the kidney. http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://purl.obolibrary.org/obo/MONDO_0001627 dementia (disease) http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. http://purl.obolibrary.org/obo/CL_0000081 blood cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell found predominately in the blood. http://purl.obolibrary.org/obo/HP_6000073 Renal lymphangiectasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0001641 severe pre-eclampsia http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. http://purl.obolibrary.org/obo/CL_0000083 epithelial cell of pancreas http://purl.obolibrary.org/obo/CL_0002371 somatic cell An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/MONDO_0001645 crescentic glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/MONDO_0001200 secondary hypertension Mild to moderate high blood pressure that is caused by an underlying medical condition. http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A inherited organic acidemia that involves the brain. http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://purl.obolibrary.org/obo/MONDO_0001700 megaloblastic anemia (disease) http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia (disease) Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. http://purl.obolibrary.org/obo/HP_6000076 Renal vasculitis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. http://purl.obolibrary.org/obo/CL_0000084 T cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/MONDO_0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/OBI_0003610 reactant role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a biological or chemical entity that participates or has molecular components that participate in a chemical reaction. http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/MONDO_0009477 Stromme syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). http://purl.obolibrary.org/obo/MONDO_0019226 glucose transport disorder http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease An acquired metabolic disease that is has its basis in the disruption of glucose transport. http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. http://purl.obolibrary.org/obo/CL_0000092 osteoclast http://purl.obolibrary.org/obo/CL_0001035 bone cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality Deviation from the norm of height with respect to that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://purl.obolibrary.org/obo/MONDO_0019240 sterol biosynthesis disorder http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000003 Multicystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. http://purl.obolibrary.org/obo/CL_0000094 granulocyte http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A leukocyte with abundant granules in the cytoplasm. http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia (disease) http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance http://purl.obolibrary.org/obo/HP_0000001 All The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/MONDO_0019286 sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the sebaceous gland. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/MONDO_0009548 renal hypomagnesemia 5 with ocular involvement http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil http://purl.obolibrary.org/obo/CL_0000775 neutrophil A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/MONDO_0019341 tuberous sclerosis complex http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/CL_0000097 mast cell http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia 3 http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. http://purl.obolibrary.org/obo/MONDO_0001870 acute poststreptococcal glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system A disease that has its basis in the disruption of heart development. http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/CL_0000113 mononuclear phagocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A vertebrate phagocyte with a single nucleus. http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema A lymphedema that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0001871 acute diffuse glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://purl.obolibrary.org/obo/MONDO_0001876 renal artery atheroma http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease A atherosclerosis that involves the renal artery. http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/CL_0000115 endothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder Dysfunction of the urinary bladder. http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disease http://purl.obolibrary.org/obo/MONDO_0005552 ocular vascular disease A disease involving the optic choroid. http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/HP_0000010 Recurrent urinary tract infections http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology Repeated infections of the urinary tract. http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/CL_0000133 neurectodermal cell http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell Ectoderm destined to be nervous tissue. http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0001907 adult dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Dermatomyositis in an adult. http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. http://purl.obolibrary.org/obo/MONDO_0009613 vitamin B12-responsive methylmalonic acidemia type cblA http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. http://purl.obolibrary.org/obo/CL_0000134 mesenchymal stem cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/MONDO_0019982 bilateral multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract An abnormality of the urinary bladder. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disease http://purl.obolibrary.org/obo/MONDO_0002356 pancreas disease A disease involving the endocrine pancreas. http://purl.obolibrary.org/obo/MONDO_0020072 childhood-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome A epilepsy syndrome that occurs during childhood. http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. http://purl.obolibrary.org/obo/MONDO_0001967 gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. http://purl.obolibrary.org/obo/HP_0000027 Azoospermia http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis Absence of any measurable level of sperm in his semen. http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/CL_0000135 fibrocyte http://purl.obolibrary.org/obo/CL_0000499 stromal cell An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. http://purl.obolibrary.org/obo/MONDO_0009614 vitamin B12-responsive methylmalonic acidemia type cblB http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A disease involving the skeletal muscle tissue. http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia An abnormality of male external genitalia. http://purl.obolibrary.org/obo/MONDO_0001969 mixed gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/HP_0000037 Male pseudohermaphroditism http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease Increased blood pressure in the arteries of the lungs; the etiology is unknown. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/CL_0000150 glandular epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that specializes in controlled release of one or more substances. http://purl.obolibrary.org/obo/MONDO_0002004 atheroembolism of kidney http://purl.obolibrary.org/obo/MONDO_0005568 cholesterol embolism A cholesterol embolism that involves the kidney. http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/MONDO_0020153 cryptophthalmia http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/CL_0000163 endocrine cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction The presence of a stenotic, i.e., constricted ureter. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/CL_0000164 enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/MONDO_0019726 type II mixed cryoglobulinemia http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. http://purl.obolibrary.org/obo/MONDO_0002022 disease of orbital region http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the orbital region. http://purl.obolibrary.org/obo/HP_0000074 Ureteropelvic junction obstruction http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/HP_0000075 Renal duplication http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. http://purl.obolibrary.org/obo/MONDO_0019727 mixed cryoglobulinemia type III http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. http://purl.obolibrary.org/obo/CL_0000183 contractile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the kidney. http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder A disease affects cognitive processes. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/CL_0000186 myofibroblast cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the genital system. http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://purl.obolibrary.org/obo/MONDO_0002049 thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the urinary system. http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/CL_0000187 muscle cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0019840 acropectororenal dysplasia http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the integumental system. http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/CL_0000192 smooth muscle cell http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the musculoskeletal system. http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/CL_0000211 electrically active cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose function is determined by the generation or the reception of an electric signal. http://purl.obolibrary.org/obo/MONDO_0009807 osteosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://purl.obolibrary.org/obo/HP_0000081 Duplicated collecting system http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. http://purl.obolibrary.org/obo/MONDO_0019979 renal hypoplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. http://purl.obolibrary.org/obo/CL_0000213 lining cell http://purl.obolibrary.org/obo/CL_0000215 barrier cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. http://purl.obolibrary.org/obo/HP_0000085 Horseshoe kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. http://purl.obolibrary.org/obo/MONDO_0019980 renal hypoplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. http://purl.obolibrary.org/obo/MONDO_0002095 vascular cancer http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm A malignant neoplasm arising from the blood vessels. http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CL_0000214 synovial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A cell located in the synovial joint. http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A developmental defect in which a kidney is located in an abnormal anatomic position. http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Hypoplasia of the kidney. http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology An abnormality of the renal tubules. http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A primary or metastatic malignant neoplasm involving the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0019981 unilateral multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/CL_0000215 barrier cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell whose primary function is to prevent the transport of stuff across compartments. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm A malignant neoplasm involving the thyroid gland http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that moves by its own activities. http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the renal system. http://purl.obolibrary.org/obo/MONDO_0019984 renal tubular dysgenesis due to twin-twin transfusion http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. http://purl.obolibrary.org/obo/MONDO_0002123 calcinosis http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/MONDO_0019988 pauci-immune glomerulonephritis with ANCA http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the glomerulus. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/MONDO_0002129 bone cancer http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. http://purl.obolibrary.org/obo/MONDO_0009894 short-rib thoracic dysplasia 6 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. http://purl.obolibrary.org/obo/CL_0000223 endodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Accumulation of scar tissue within the glomerulus. http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). http://purl.obolibrary.org/obo/CL_0000225 anucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that lacks a nucleus. http://purl.obolibrary.org/obo/MONDO_0019989 pauci-immune glomerulonephritis without ANCA http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/MONDO_0009904 Gitelman syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. http://purl.obolibrary.org/obo/HP_0000097 Focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A congenital disorder characterized by abnormalities in the development of the sexual characteristics. http://purl.obolibrary.org/obo/CL_0000226 single nucleate cell http://purl.obolibrary.org/obo/CL_0002242 nucleate cell A cell with a single nucleus. http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/MONDO_0019990 non-amyloid fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height A height above that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/MONDO_0019993 congenital renal artery stenosis http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension A narrowing of renal arteries that is present since birth. http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An autosomal recessive form of PXE. http://purl.obolibrary.org/obo/CL_0000232 erythrocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disease A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://purl.obolibrary.org/obo/CL_0000233 platelet http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm A malignant neoplasm involving the reproductive organ http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/CL_0000234 phagocyte http://purl.obolibrary.org/obo/CL_0000473 defensive cell Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/MONDO_0002176 connective tissue cancer http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A malignant neoplasm involving the connective tissue http://purl.obolibrary.org/obo/MONDO_0020216 secondary dysgenetic glaucoma http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. http://purl.obolibrary.org/obo/HP_0000103 Polyuria http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output An increased rate of urine production. http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Agenesis, that is, failure of the kidney to develop during embryogenesis and development. http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). http://purl.obolibrary.org/obo/CL_0000235 macrophage http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://purl.obolibrary.org/obo/HP_0000105 Enlarged kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal increase in the size of the kidney. http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm A cancer that involves the adrenal cortex. http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0021540 hamartoma of lung http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm A hamartoma (disease) that involves the lung. http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type Disorders caused by abnormalities in platelet count or function. http://purl.obolibrary.org/obo/CL_0000236 B cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A fluid filled sac in the kidney. http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. http://purl.obolibrary.org/obo/MONDO_0002256 cervix disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://purl.obolibrary.org/obo/HP_0000108 Renal corticomedullary cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of multiple cysts at the border between the renal cortex and medulla. http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder http://purl.obolibrary.org/obo/MONDO_0006873 nutritional deficiency disease A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A non-neoplastic or neoplastic disorder that affects the testis or the ovary. http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://purl.obolibrary.org/obo/CL_0000313 serous secreting cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A disease involving the female reproductive system. http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/MONDO_0010024 Beemer-Langer syndrome http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/MONDO_0024327 chronic renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Impairment of the renal function due to chronic kidney damage. http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Increased number and size of the juxtaglomerular cells. http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/CL_0000325 stuff accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/MONDO_0002269 gastroenteritis http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/MONDO_0010029 situs inversus http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/GO_0150063 visual system development http://purl.obolibrary.org/obo/GO_0048880 sensory system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. http://purl.obolibrary.org/obo/MONDO_0002273 plasma protein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder that involves plasma protein metabolism malfunction. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://purl.obolibrary.org/obo/HP_0031922 Renal artery duplication http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. http://purl.obolibrary.org/obo/CL_0000335 mesenchyme condensation cell http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/CL_0000352 epiblast cell http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. http://purl.obolibrary.org/obo/HP_0000112 Nephropathy http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder A vascular disorder characterized by thickening and hardening of the walls of the arteries. http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell A smooth muscle cell associated with the vasculature. http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of multiple cysts in both kidneys. http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/CL_0000365 animal zygote http://purl.obolibrary.org/obo/CL_0010017 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia (disease) http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) Anemia that is characterized by increased red blood cell volume. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/CL_0000393 electrically responsive cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder A hypertensive disorder that develops during pregnancy. http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease A disease involving the renal artery. http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/BFO_0000019 quality A phenotypic abnormality. http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/CL_0000404 electrically signaling cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/MONDO_0025370 urogenital neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Tumors or cancer of the urogenital system in either the male or the female. http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0002289 iris disease http://purl.obolibrary.org/obo/MONDO_0002661 uveal disease A disease involving the iris. http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality The presence of any abnormality of the genitourinary system. http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/MONDO_0029001 chemically-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. http://purl.obolibrary.org/obo/CL_0000424 excretory cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. http://purl.obolibrary.org/obo/MONDO_0002300 dermis tumor http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease A benign, intermediate, or malignant neoplasm that arises from the dermis. http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/HP_0000122 Unilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A unilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/CL_0000451 dendritic cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/MONDO_0002305 thrombophilia http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility http://purl.obolibrary.org/obo/BFO_0000016 disposition A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/CL_0000458 serotonin secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/MONDO_0010351 Fanconi anemia complementation group b http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. http://purl.obolibrary.org/obo/HP_0000123 Nephritis http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A metabolic disorder that affects the phosphate homeostasis. http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/CL_0000473 defensive cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to protect the organism. http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/CL_0000499 stromal cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. http://purl.obolibrary.org/obo/MONDO_0043424 digestive system infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. http://purl.obolibrary.org/obo/HP_0000125 Pelvic kidney http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/HP_0000126 Hydronephrosis http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis Severe distention of the kidney with dilation of the renal pelvis and calices. http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/CL_0000514 smooth muscle myoblast http://purl.obolibrary.org/obo/CL_0000056 myoblast A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. http://purl.obolibrary.org/obo/MONDO_0043494 arteritis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis An inflammatory process affecting an artery. http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders A decreased functionality of the gonad. http://purl.obolibrary.org/obo/CL_0000518 phagocyte (sensu Vertebrata) http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell A phagocyte in vertebrates that is able to phagocytosis. http://purl.obolibrary.org/obo/MONDO_0010503 Bartter disease type 5 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of head and neck. http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/MONDO_0043549 crush syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness X-linked form of Alport syndrome. http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face An abnormality of the mouth. http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/CL_0002319 neural cell The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/MONDO_0043985 central nervous system lupus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. http://purl.obolibrary.org/obo/HP_0000202 Oral cleft http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. http://purl.obolibrary.org/obo/MONDO_0002341 granulomatous angiitis http://purl.obolibrary.org/obo/MONDO_0043494 arteritis Inflammation of the arteries that is characterized by the presence of granulomas. http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck An abnormality of the head. http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. http://purl.obolibrary.org/obo/MONDO_0002342 chondromalacia http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease Pathological processes involving the chondral tissue (cartilage). http://purl.obolibrary.org/obo/MONDO_0044210 thalassemia minor http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB The inheritance of only one mutated beta-globin allele (beta+ or beta0). http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CL_0000547 proerythroblast http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology Any abnormality of the size of the skull. http://purl.obolibrary.org/obo/MONDO_0045036 primary infectious http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic A characteristic of an infectious disease in which the disease affects an immunologically normal host. http://purl.obolibrary.org/obo/CL_0000549 basophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/MONDO_0100033 metabolic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. http://purl.obolibrary.org/obo/HP_0000286 Epicanthus http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/MONDO_0002356 pancreas disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0031703 Abnormal ear morphology An abnormality of the inner ear. http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/MONDO_0002363 papilloma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality http://purl.obolibrary.org/obo/HP_0031704 Abnormal ear physiology An abnormality of the sensory perception of sound. http://purl.obolibrary.org/obo/CL_0000552 orthochromatic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0010916 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0002365 kidney hemangiopericytoma http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A hemangiopericytoma arising from the kidney. http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/MONDO_0010953 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. http://purl.obolibrary.org/obo/MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology A structural abnormality of the retina. http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm Primary or metastatic malignant neoplasm involving the kidney. http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0011112 Wilms tumor 5 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition A disorder involving an excessive amount of body fat. http://purl.obolibrary.org/obo/MONDO_0002385 benign cystic nephroma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. http://purl.obolibrary.org/obo/HP_0000486 Strabismus http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. http://purl.obolibrary.org/obo/MONDO_0011127 Bartter disease type 1 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome http://purl.obolibrary.org/obo/MONDO_0024889 benign mesonephroma http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology An abnormality of the eyelids. http://purl.obolibrary.org/obo/MONDO_0002386 mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://purl.obolibrary.org/obo/MONDO_0040870 primary polydipsia http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology An abnormality in voluntary or involuntary eye movements or their control. http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology An abnormality of the eyelashes. http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma http://purl.obolibrary.org/obo/MONDO_0004972 adenoma An adenoma arising from the renal cortex. http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/CL_0000558 reticulocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/MONDO_0041295 acute papillary necrosis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Acute form of kidney papillary necrosis. http://purl.obolibrary.org/obo/HP_0000501 Glaucoma http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/MONDO_0002396 nephrogenic adenofibroma http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CL_0000559 promonocyte http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Abnormality of eyesight (visual perception). http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease or disorder that is induced by either chemical or radiation exposure. http://purl.obolibrary.org/obo/CL_0000566 angioblastic mesenchymal cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A mesenchymal stem cell capable of developing into blood vessel endothelium. http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/CL_0000576 monocyte http://purl.obolibrary.org/obo/CL_0011026 progenitor cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/ENVO_01001446 usage of an environment for residential activity http://purl.obolibrary.org/obo/ENVO_01001436 planned environmental usage process A planned environmental usage process during which an environment supports the settlement and dwelling of a community of humans. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/MONDO_0002409 auditory system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the auditory system. http://purl.obolibrary.org/obo/HP_0000525 Abnormality iris morphology http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro http://purl.obolibrary.org/obo/CL_0000000 cell A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. http://purl.obolibrary.org/obo/MONDO_0002412 glycogen storage disease http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/ENVO_01001436 planned environmental usage process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A planned process during which humans access and obtain resources, benefits, or services from a natural or anthropised ecosystem. http://purl.obolibrary.org/obo/HP_0000553 Abnormal uvea morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the uvea, the vascular layer of the eyeball. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0011325 Fanconi anemia complementation group f http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the ear. http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-CDG http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. http://purl.obolibrary.org/obo/CL_0000586 germ cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell The reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disease http://purl.obolibrary.org/obo/MONDO_0005560 brain disease Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/HP_0000726 Dementia http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/MONDO_0100151 nephropathic cystinosis http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0002461 membranoproliferative glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/CL_0000623 natural killer cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/KTAO_0000036 podocytopathy marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the podocytopathy (podocyte injury). An example of such a marker is Ezrin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/MONDO_0011390 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. http://purl.obolibrary.org/obo/CL_0000630 supporting cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. http://purl.obolibrary.org/obo/KTAO_0000037 Denys-Drash syndrome podocyte marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the DDS (Denys-Drash syndrome) in podocyte. An example of such a marker is VEGF (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/CL_0000648 kidney granular cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/HP_0000793 Membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/KTAO_0000038 podocyte maturation marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker A podocyte marker that indicates the podocyte maturity. An example of such a marker is Vimentin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_0000650 mesangial cell http://purl.obolibrary.org/obo/CL_0000669 pericyte cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. http://purl.obolibrary.org/obo/HP_0000794 IgA deposition in the glomerulus http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of immunoglobulin A deposits in the glomerulus. http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/HP_0000799 Renal steatosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormal fat accumulation in the kidneys. http://purl.obolibrary.org/obo/CL_0000653 podocyte http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. http://purl.obolibrary.org/obo/MONDO_0002476 anuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Absence of urine output. http://purl.obolibrary.org/obo/PR_000050567 protein-containing material entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that minimally consists of a protein. http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/UBERON_0000310 breast http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone The upper ventral region of the torso of an organism. http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. http://purl.obolibrary.org/obo/MONDO_0011456 nephronophthisis 3 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology Cysts of the cortex of the kidney. http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_0000669 pericyte cell http://purl.obolibrary.org/obo/CL_0008034 mural cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities http://purl.obolibrary.org/obo/MONDO_0002512 papillary adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. http://purl.obolibrary.org/obo/HP_0000804 Xanthine nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/PATO_0000025 composition http://purl.obolibrary.org/obo/PATO_0000141 structure A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the endocrine system. http://purl.obolibrary.org/obo/PATO_0000051 morphology http://purl.obolibrary.org/obo/BFO_0000019 quality A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell http://purl.obolibrary.org/obo/CL_0000034 stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/HP_0000822 Hypertension http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/PATO_0000052 shape http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). http://purl.obolibrary.org/obo/CL_0000731 urothelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis Autosomal recessive form of craniosynostosis. http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern http://purl.obolibrary.org/obo/PATO_0000051 morphology A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/MONDO_0011752 nephronophthisis 4 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) http://purl.obolibrary.org/obo/PATO_0000068 qualitative A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/MONDO_0011756 Senior-Loken syndrome 4 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://purl.obolibrary.org/obo/PATO_0000070 amount http://purl.obolibrary.org/obo/PATO_0000068 qualitative The number of entities of this type that are part of the whole organism. http://purl.obolibrary.org/obo/MONDO_0002532 squamous cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CL_0000763 myeloid cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/PATO_0000117 size http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm An adenoma characterized by the presence of papillary epithelial patterns. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/MONDO_0011821 Meckel syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/PATO_0000119 height http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A 1-D extent quality inhering in a bearer by virtue of the bearer's vertical dimension of extension. http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/MONDO_0002537 inverted papilloma http://purl.obolibrary.org/obo/MONDO_0002363 papilloma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/CL_0000765 erythroblast http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality inhering in a bearer that has mass near a gravitational body. http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement (11q14.1), resulting in a block in the initial step of protein glycosylation. http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the renin-angiotensin system. http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/PATO_0000140 position http://purl.obolibrary.org/obo/PATO_0001018 physical quality A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. http://purl.obolibrary.org/obo/HP_0000855 Insulin resistance http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A disease involving the central nervous system. http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/PATO_0000141 structure http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/PATO_0000161 rate http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. http://purl.obolibrary.org/obo/MONDO_0002603 angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A cell of the monocyte, granulocyte, or mast cell lineage. http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. http://purl.obolibrary.org/obo/MONDO_0012184 Pierson syndrome http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. http://purl.obolibrary.org/obo/PATO_0000389 acute http://purl.obolibrary.org/obo/PATO_0001309 duration A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin. http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. http://purl.obolibrary.org/obo/PATO_0000402 branched http://purl.obolibrary.org/obo/PATO_0002009 branchiness A branchiness quality inhering in a bearer by virtue of the bearer's having branches. http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/MONDO_0002610 purpura (disease) http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/CL_0000767 basophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia Aplastic anemia without a known cause. http://purl.obolibrary.org/obo/PATO_0000411 circular http://purl.obolibrary.org/obo/PATO_0000947 elliptic A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/HP_0000953 Hyperpigmentation of the skin http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/PATO_0000440 regular spatial pattern http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern A pattern quality inhering in a bearer by virtue of the bearer's having a repeatable or predictable placement. http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/MONDO_0012225 Senior-Loken syndrome 5 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. http://purl.obolibrary.org/obo/MONDO_0002614 bone inflammation disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease Inflammation of the bone. http://purl.obolibrary.org/obo/CL_0000775 neutrophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/PATO_0000460 abnormal http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/MONDO_0012266 preeclampsia/eclampsia 4 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. http://purl.obolibrary.org/obo/HP_0000992 Cutaneous photosensitivity http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. http://purl.obolibrary.org/obo/CL_0000782 myeloid dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. http://purl.obolibrary.org/obo/PATO_0000461 normal http://purl.obolibrary.org/obo/PATO_0000068 qualitative A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. http://purl.obolibrary.org/obo/CL_0000785 mature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/MONDO_0002621 extraosseous osteosarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An osteosarcoma arising from the soft tissue. http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/HP_0001072 Thickened skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology Laminar thickening of skin. http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/MONDO_0012371 Noonan syndrome 3 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. http://purl.obolibrary.org/obo/CL_0000786 plasma cell http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/PATO_0000462 absent http://purl.obolibrary.org/obo/PATO_0000070 amount A quality denoting the lack of an entity. http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural abnormality of the fundus of the eye. http://purl.obolibrary.org/obo/MONDO_0012433 Senior-Loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/MONDO_0002657 breast disease http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease A disease involving the breast. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/PATO_0000467 present http://purl.obolibrary.org/obo/PATO_0000070 amount A quality inhering in a bearer by virtue of the bearer's existence. http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses an alpha-beta T cell receptor complex. http://purl.obolibrary.org/obo/HP_0001103 Abnormal macular morphology http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/MONDO_0012547 Noonan syndrome 4 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. http://purl.obolibrary.org/obo/MONDO_0002661 uveal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/PATO_0000470 increased amount http://purl.obolibrary.org/obo/PATO_0002300 increased quality An amount which is relatively high. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002420 immature T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002419 mature T cell A alpha-beta T cell that has a mature phenotype. http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly http://purl.obolibrary.org/obo/HP_0011927 Short digit Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/PATO_0000586 increased size http://purl.obolibrary.org/obo/PATO_0002305 increased object quality A size quality which is relatively high. http://purl.obolibrary.org/obo/CL_0000805 immature single positive thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/MONDO_0002728 rhabdoid tumor http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. http://purl.obolibrary.org/obo/PATO_0000587 decreased size http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A size quality which is relatively low. http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/CL_0000806 DN2 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/MONDO_0012644 asphyxiating thoracic dystrophy 2 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/MONDO_0002729 rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. http://purl.obolibrary.org/obo/PATO_0000614 oriented http://purl.obolibrary.org/obo/PATO_0000440 regular spatial pattern A pattern where all the repeated elements are oriented in the same direction. http://purl.obolibrary.org/obo/HP_0001251 Ataxia http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). http://purl.obolibrary.org/obo/PATO_0000618 bilateral http://purl.obolibrary.org/obo/PATO_0000140 position A positional quality inhering in a bearer by virtue of the bearer's having two sides; two-sided. http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/MONDO_0012680 nephronophthisis 7 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. http://purl.obolibrary.org/obo/MONDO_0012690 Noonan syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. http://purl.obolibrary.org/obo/CL_0000807 DN3 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A kidney neoplasm that occurs during childhood. http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/PATO_0000628 mislocalised http://purl.obolibrary.org/obo/PATO_0002181 displaced A positional quality inhering in a bearer by virtue the bearer's being changed in abnormal position. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/MONDO_0012695 Meckel syndrome, type 5 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. http://purl.obolibrary.org/obo/HP_0001257 Spasticity http://purl.obolibrary.org/obo/HP_0001276 Hypertonia A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CL_0000808 DN4 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/MONDO_0002782 cranial nerve palsy http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. http://purl.obolibrary.org/obo/PATO_0000634 unilateral http://purl.obolibrary.org/obo/PATO_0000060 spatial pattern A spatial pattern inhering in a bearer by virtue of the bearer's involvement of only one part or side. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/MONDO_0012717 renal hypomagnesemia 4 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment Loss of previously present mental abilities, generally in adults. http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic tumor http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. http://purl.obolibrary.org/obo/PATO_0000640 dysplastic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's exhibiting an alteration in size, shape or organization of its constituent cells. http://purl.obolibrary.org/obo/CL_0000809 double-positive, alpha-beta thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/HP_0001305 Dandy-Walker malformation http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A malignant mesenchymal neoplasm arising from adipocytes. http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. http://purl.obolibrary.org/obo/PATO_0000645 hypoplastic http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A physical quality inhering in an organ or tissue by virtue of the bearer's exhibiting a decreased number of cells, typically associated with a decrease in size. http://purl.obolibrary.org/obo/CL_0000814 mature NK T cell http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon Any structural abnormality of the cerebellum. http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/MONDO_0002814 adrenal carcinoma http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer A carcinoma involving a adrenal gland. http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/PATO_0000647 necrotic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. http://purl.obolibrary.org/obo/CL_0000816 immature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/MONDO_0012819 diabetic ketoacidosis http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. http://purl.obolibrary.org/obo/HP_0001320 Cerebellar vermis hypoplasia http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis Underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A disease involving the adrenal cortex. http://purl.obolibrary.org/obo/PATO_0000911 decreased rate http://purl.obolibrary.org/obo/PATO_0002302 decreased process quality A rate which is relatively low. http://purl.obolibrary.org/obo/CL_0000817 precursor B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm A malignant neoplasm involving the adrenal gland http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/PATO_0000912 increased rate http://purl.obolibrary.org/obo/PATO_0002304 increased process quality A rate which is relatively high. http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the liver. http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. http://purl.obolibrary.org/obo/MONDO_0002837 sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/PATO_0000947 elliptic http://purl.obolibrary.org/obo/PATO_0002318 superelliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. http://purl.obolibrary.org/obo/HP_0001396 Cholestasis http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system Impairment of bile flow due to obstruction in bile ducts. http://purl.obolibrary.org/obo/CL_0000825 pro-NK cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/MONDO_0002869 heart valve disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease involving the cardial valve. http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). http://purl.obolibrary.org/obo/PATO_0001018 physical quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/CL_0000826 pro-B cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/HP_0001417 X-linked inheritance http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. http://purl.obolibrary.org/obo/CL_0000827 pro-T cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/MONDO_0002884 nail disease http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder A disease involving the nail. http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/BFO_0000019 quality A quality which inheres in an process. http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. http://purl.obolibrary.org/obo/CL_0000831 mast cell progenitor http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disorder characterized by abnormal blood glucose levels. http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/BFO_0000019 quality A quality which inheres in a continuant. http://purl.obolibrary.org/obo/PATO_0001309 duration http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/MONDO_0002917 disease of pilosebaceous unit http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the pilosebaceous unit. http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the myeloid lineage. http://purl.obolibrary.org/obo/MONDO_0002924 smooth muscle cancer http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor A malignant neoplasm arising from smooth muscle. http://purl.obolibrary.org/obo/PATO_0001393 euploid http://purl.obolibrary.org/obo/PATO_0001374 ploidy A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology An abnormality of the hair. http://purl.obolibrary.org/obo/PATO_0001397 cellular potency http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. http://purl.obolibrary.org/obo/CL_0000860 classical monocyte http://purl.obolibrary.org/obo/CL_0000576 monocyte A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/MONDO_0002926 clear cell sarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology Abnormality of the nail. http://purl.obolibrary.org/obo/PATO_0001400 unipotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to produce only one differentiated cell type. http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. http://purl.obolibrary.org/obo/CL_0000862 suppressor macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage A macrophage that suppresses immune responses. http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/PATO_0001401 oligopotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. http://purl.obolibrary.org/obo/CL_0000863 inflammatory macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A sarcoma involving a kidney. http://purl.obolibrary.org/obo/PATO_0001402 multipotent http://purl.obolibrary.org/obo/PATO_0001397 cellular potency A cellular potency that is the capacity to form multiple differentiated cell types. http://purl.obolibrary.org/obo/CL_0000864 tissue-resident macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart. http://purl.obolibrary.org/obo/MONDO_0013248 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. http://purl.obolibrary.org/obo/CL_0000890 alternatively activated macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0002933 osteosclerosis http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Abnormally high bone density. http://purl.obolibrary.org/obo/HP_0001635 Congestive heart failure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). http://purl.obolibrary.org/obo/PATO_0001405 anucleate http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. http://purl.obolibrary.org/obo/CL_0000891 foam cell http://purl.obolibrary.org/obo/CL_0000000 cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/HP_0001669 Transposition of the great arteries http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. http://purl.obolibrary.org/obo/PATO_0001407 mononucleate http://purl.obolibrary.org/obo/PATO_0002505 nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. http://purl.obolibrary.org/obo/CL_0000893 thymocyte http://purl.obolibrary.org/obo/CL_0002420 immature T cell An immature T cell located in the thymus. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm A primary or metastatic malignant neoplasm involving the cervix. http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/HP_0001679 Abnormal aortic morphology http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels An abnormality of the aorta. http://purl.obolibrary.org/obo/PATO_0001447 calcified http://purl.obolibrary.org/obo/PATO_0000025 composition A composition quality inhering in an bearer by virtue of the bearer's being encrusted or impregnated with calcium carbonate (CHEBI:3311). http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T cell http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. http://purl.obolibrary.org/obo/HP_0001710 Conotruncal defect http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disease of the nervous system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/PATO_0001473 duplicated http://purl.obolibrary.org/obo/PATO_0000470 increased amount A quality inhering in a bearer by virtue of the bearer's being present in two copies. http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the pancreas. http://purl.obolibrary.org/obo/MONDO_0003007 childhood kidney cell carcinoma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A renal cell carcinoma that occurs during childhood. http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/PATO_0001509 functionality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of a single physical entity that arises by virtue of whether the bearer exhibits the ability to perform a regular function(s). http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/MONDO_0013379 Noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system An abnormality of the spleen. http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/PATO_0001510 functional http://purl.obolibrary.org/obo/PATO_0001509 functionality A functionality quality held by the bearer when the latter is able to perform a regular function(s). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/PATO_0001511 non-functional http://purl.obolibrary.org/obo/PATO_0001509 functionality A disfunctional quality held by the bearer when the latter is unable to perform a regular function(s). http://purl.obolibrary.org/obo/CL_0000954 small pre-B-II cell http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/MONDO_0013441 asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/PATO_0001555 has number of http://purl.obolibrary.org/obo/PATO_0001241 physical object quality The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. http://purl.obolibrary.org/obo/MONDO_0003009 hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0006640 adrenal gland hyperfunction Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell http://purl.obolibrary.org/obo/CL_0000817 precursor B cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/PATO_0001558 lacking processual parts http://purl.obolibrary.org/obo/PATO_0001564 extra or missing processual parts A quality of a process inhering in a bearer by virtue of the bearer's lacking a processual part as specified by the additional entity. http://purl.obolibrary.org/obo/HP_0001877 Abnormal erythrocyte morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/PATO_0001564 extra or missing processual parts http://purl.obolibrary.org/obo/PATO_0001236 process quality A quality of a process inhering in a bearer by virtue of the bearer's processual parts. http://purl.obolibrary.org/obo/PATO_0001571 dilated http://purl.obolibrary.org/obo/PATO_0000586 increased size A size quality inhering in a bearer by virtue of the bearer's being made wider or larger in all dimensions. http://purl.obolibrary.org/obo/MONDO_0013442 nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/CL_0000980 plasmablast http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/HP_0001892 Abnormal bleeding http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. http://purl.obolibrary.org/obo/MONDO_0003010 multilocular clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. http://purl.obolibrary.org/obo/MONDO_0003011 mucinous tubular and spindle renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. http://purl.obolibrary.org/obo/PATO_0001576 increased pressure http://purl.obolibrary.org/obo/PATO_0001025 pressure A pressure which is relatively high. http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell http://purl.obolibrary.org/obo/CL_0000451 dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/CL_0001007 interstitial dendritic cell http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. http://purl.obolibrary.org/obo/MONDO_0003012 sarcomatoid renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006406 sarcomatoid carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/PATO_0001579 contractility http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that is the ability to contract or shrink. http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). http://purl.obolibrary.org/obo/MONDO_0003061 benign muscle neoplasm http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. http://purl.obolibrary.org/obo/PATO_0001599 rotated http://purl.obolibrary.org/obo/PATO_0000614 oriented An oriented quality inhering in a bearer by virtue of the bearer's being relocated around an axis. http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0003064 inverted transitional cell papilloma http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. http://purl.obolibrary.org/obo/MONDO_0013565 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCG gene. http://purl.obolibrary.org/obo/HP_0001919 Acute kidney injury http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/CL_0001035 bone cell http://purl.obolibrary.org/obo/CL_0000000 cell A connective tissue cell found in bone. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/MONDO_0003084 uremic neuropathy http://purl.obolibrary.org/obo/MONDO_0007008 uremia Neuropathy resulting from uremia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/HP_0001920 Renal artery stenosis http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/PATO_0001623 atrophied http://purl.obolibrary.org/obo/PATO_0000587 decreased size A size quality inhering in a bearer by virtue of a part or parts of the bearer's being decreased in size due to reduction in tissue mass through wasting. http://purl.obolibrary.org/obo/MONDO_0003130 mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. http://purl.obolibrary.org/obo/PATO_0001624 decreased functionality http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality A functionality quality held by the bearer when the latter exhibits decreased ability to perform a regular function(s). http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/MONDO_0013569 short-rib thoracic dysplasia 7 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. http://purl.obolibrary.org/obo/MONDO_0003133 exudative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/MONDO_0013589 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. http://purl.obolibrary.org/obo/HP_0001941 Acidosis http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis Abnormal acid accumulation or depletion of base. http://purl.obolibrary.org/obo/PATO_0001673 cystic http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities Structure quality that is the presence of at least one sac-like closed membranous structure containing one or more liquid or solid organism substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/MONDO_0003134 proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. http://purl.obolibrary.org/obo/MONDO_0003135 focal embolic glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/MONDO_0013717 asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis http://purl.obolibrary.org/obo/HP_0001941 Acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/PATO_0001690 contractile http://purl.obolibrary.org/obo/PATO_0001579 contractility A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/MONDO_0003136 anti-basement membrane glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. http://purl.obolibrary.org/obo/MONDO_0013718 nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/CL_0002028 basophil mast progenitor cell http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/HP_0001945 Fever http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Elevated body temperature due to failed thermoregulation. http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/PATO_0001847 constricted http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in a bearer by virtue of the bearer's being drawn together, compressed or squeezed physically. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/MONDO_0003137 diffuse glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/HP_0001959 Polydipsia http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior Excessive thirst manifested by excessive fluid intake. http://purl.obolibrary.org/obo/MONDO_0003138 subacute glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. http://purl.obolibrary.org/obo/PATO_0001857 concave http://purl.obolibrary.org/obo/PATO_0002005 concavity A shape quality in a bearer by virtue of the bearer's curving inward. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. http://purl.obolibrary.org/obo/CL_0002039 immature NK T cell stage I http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. http://purl.obolibrary.org/obo/PATO_0001863 chronic http://purl.obolibrary.org/obo/PATO_0001309 duration A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. http://purl.obolibrary.org/obo/CL_0002040 immature NK T cell stage II http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/CL_0002041 immature NK T cell stage III http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/MONDO_0003139 mesangial proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology An abnormality that involves the tubules and interstitial tissue of the kidney. http://purl.obolibrary.org/obo/PATO_0001873 cylindrical http://purl.obolibrary.org/obo/PATO_0002007 convex 3-D shape A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. http://purl.obolibrary.org/obo/MONDO_0003140 immune-complex glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/CL_0002042 immature NK T cell stage IV http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/MONDO_0003150 male reproductive system disease http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A disease involving the male reproductive system. http://purl.obolibrary.org/obo/PATO_0001874 discoid http://purl.obolibrary.org/obo/PATO_0001873 cylindrical A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://purl.obolibrary.org/obo/MONDO_0003205 renal pelvis adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A carcinoma that arises from glandular epithelial cells of the renal pelvis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001994 Renal Fanconi syndrome http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. http://purl.obolibrary.org/obo/MONDO_0013916 nephronophthisis 14 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. http://purl.obolibrary.org/obo/PATO_0001879 U-shaped http://purl.obolibrary.org/obo/PATO_0002008 concave 3-D shape A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter U. http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology A structural abnormality of the central nervous system. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from endoderm. http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A disease involving the thyroid gland. http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex http://purl.obolibrary.org/obo/PATO_0000047 biological sex An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics. http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the viscera of the abdomen. http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax A primary or metastatic malignant neoplasm affecting the tissues of the thorax. http://purl.obolibrary.org/obo/CL_0002077 ecto-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from ectoderm. http://purl.obolibrary.org/obo/MONDO_0014143 Noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. http://purl.obolibrary.org/obo/PATO_0001979 lobed http://purl.obolibrary.org/obo/PATO_0000052 shape A shape quality inhering in a bearer by virtue of the bearer's being partly divided into a determinate number of regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/HP_0002013 Vomiting http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. http://purl.obolibrary.org/obo/PATO_0001987 saccular http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. http://purl.obolibrary.org/obo/MONDO_0003291 leiomyoma cutis http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell Epithelial cell derived from mesoderm or mesenchyme. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/MONDO_0014214 short-rib thoracic dysplasia 8 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. http://purl.obolibrary.org/obo/MONDO_0003295 leiomyomatosis http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. http://purl.obolibrary.org/obo/HP_0002014 Diarrhea http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Abnormally increased frequency of loose or watery bowel movements. http://purl.obolibrary.org/obo/PATO_0001992 cellularity http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell http://purl.obolibrary.org/obo/CL_0001035 bone cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/MONDO_0014287 short-rib thoracic dysplasia 11 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. http://purl.obolibrary.org/obo/MONDO_0014374 nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. http://purl.obolibrary.org/obo/PATO_0001993 multicellular http://purl.obolibrary.org/obo/PATO_0001992 cellularity A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. http://purl.obolibrary.org/obo/MONDO_0003316 nonanaplastic kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000115 endothelial cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/MONDO_0014434 Bardet-Biedl syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. http://purl.obolibrary.org/obo/PATO_0001997 decreased amount http://purl.obolibrary.org/obo/PATO_0002301 decreased quality An amount which is relatively low. http://purl.obolibrary.org/obo/HP_0002020 Gastroesophageal reflux http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/PATO_0001999 lacks parts or has fewer parts of type http://purl.obolibrary.org/obo/PATO_0002083 altered number of The bearer of this quality has_part < n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. This case includes the limit case, where the bearer lacks all parts of the specified type. http://purl.obolibrary.org/obo/MONDO_0003317 metachronous kidney Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell An endothelial cell found in capillaries. http://purl.obolibrary.org/obo/MONDO_0014435 Bardet-Biedl syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain http://purl.obolibrary.org/obo/HP_0012531 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/PATO_0002000 lacks all parts of type http://purl.obolibrary.org/obo/PATO_0001999 lacks parts or has fewer parts of type A quality of physical entities inhering in a bearer by virtue of the bearer's lacking a physical part as specified by the additional entity. http://purl.obolibrary.org/obo/CL_0002173 extraglomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. http://purl.obolibrary.org/obo/MONDO_0014436 Bardet-Biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. http://purl.obolibrary.org/obo/MONDO_0003318 mixed cell type kidney Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/MONDO_0003320 blastema predominant kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. http://purl.obolibrary.org/obo/HP_0002039 Anorexia http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology A lack or loss of appetite for food (as a medical condition). http://purl.obolibrary.org/obo/MONDO_0014437 Bardet-Biedl syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. http://purl.obolibrary.org/obo/PATO_0002005 concavity http://purl.obolibrary.org/obo/PATO_0000052 shape Surface shape that refers to the inward or outward curvature of the surface. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/MONDO_0014438 Bardet-Biedl syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a monocyte (monopoiesis). http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) http://purl.obolibrary.org/obo/PATO_0002006 2-D shape http://purl.obolibrary.org/obo/PATO_0000052 shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002048 Renal cortical atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy Atrophy of the cortex of the kidney. http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://purl.obolibrary.org/obo/MONDO_0014440 Bardet-Biedl syndrome 12 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. http://purl.obolibrary.org/obo/MONDO_0003322 epithelial predominant Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002049 Proximal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. http://purl.obolibrary.org/obo/PATO_0002007 convex 3-D shape http://purl.obolibrary.org/obo/PATO_0002266 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/MONDO_0014441 Bardet-Biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/CL_0002242 nucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell containing at least one nucleus. http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/HP_0002060 Abnormal cerebral morphology http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/MONDO_0003330 urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Blockage of the normal flow of contents of the urinary tract. http://purl.obolibrary.org/obo/PATO_0002008 concave 3-D shape http://purl.obolibrary.org/obo/PATO_0002266 3-D shape A complete three dimensional shape in which there is a line connecting pair of points on the object that lies outside the object. Or: a shape with cavities. Contrast: concave. http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes histamine. http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/MONDO_0014445 Bardet-Biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. http://purl.obolibrary.org/obo/MONDO_0014446 Bardet-Biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. http://purl.obolibrary.org/obo/MONDO_0014447 Bardet-Biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the proximal tubule of the kidney. http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/CL_0002307 brush border cell of the proximal tubule http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. http://purl.obolibrary.org/obo/PATO_0002009 branchiness http://purl.obolibrary.org/obo/PATO_0000052 shape A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. http://purl.obolibrary.org/obo/MONDO_0003346 central nervous system vasculitis http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease Vasculitis affecting the blood vessels of the brain and/or spinal cord. http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Abnormality of the cerebral ventricles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of the nervous system. http://purl.obolibrary.org/obo/MONDO_0014462 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/PATO_0002011 neoplastic http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. http://purl.obolibrary.org/obo/MONDO_0003373 kidney leiomyosarcoma http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/MONDO_0014537 nephronophthisis 19 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An increase in size of the ventricular system of the brain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/MONDO_0003381 pituitary gland disease http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disease involving the pituitary gland. http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell of the embryo. http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://purl.obolibrary.org/obo/CL_0002371 somatic cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://purl.obolibrary.org/obo/HP_0002157 Azotemia http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/MONDO_0014577 short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/CL_0002419 mature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. http://purl.obolibrary.org/obo/CL_0002420 immature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that has not completed T cell selection. http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A disease involving the eyelid. http://purl.obolibrary.org/obo/PATO_0002039 biconcave http://purl.obolibrary.org/obo/PATO_0001857 concave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. http://purl.obolibrary.org/obo/HP_0002198 Dilated fourth ventricle http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. http://purl.obolibrary.org/obo/MONDO_0014638 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0003410 Wolffian duct adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. http://purl.obolibrary.org/obo/PATO_0002045 dendritic http://purl.obolibrary.org/obo/PATO_0000402 branched A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. http://purl.obolibrary.org/obo/CL_0002425 early T lineage precursor http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/HP_0002240 Hepatomegaly http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly Abnormally increased size of the liver. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://purl.obolibrary.org/obo/MONDO_0014691 Noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. http://purl.obolibrary.org/obo/MONDO_0014692 retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/MONDO_0014693 Noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group r http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. http://purl.obolibrary.org/obo/MONDO_0014997 nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/PATO_0002070 affinity http://purl.obolibrary.org/obo/PATO_0002182 molecular quality A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). http://purl.obolibrary.org/obo/HP_0002242 Abnormal intestine morphology http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. http://purl.obolibrary.org/obo/PATO_0002078 hollow http://purl.obolibrary.org/obo/PATO_0002014 structure, cavities A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. http://purl.obolibrary.org/obo/PATO_0002083 altered number of http://purl.obolibrary.org/obo/PATO_0001555 has number of Having extra or fewer parts. http://purl.obolibrary.org/obo/PATO_0002089 polycystic http://purl.obolibrary.org/obo/PATO_0001673 cystic A structure quality inhering in a bearer by virtue of the bearer's body containing more than one cyst - formations of sac-like closed membranous structures not associated with neoplasia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 http://purl.obolibrary.org/obo/PATO_0002092 anaplastic http://purl.obolibrary.org/obo/PATO_0000051 morphology A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. http://purl.obolibrary.org/obo/HP_0002315 Headache http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. http://purl.obolibrary.org/obo/PATO_0002094 basophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CL_0002494 cardiocyte http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell located in the heart, including both muscle and non muscle cells. http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell An epithelial cell of the kidney. http://purl.obolibrary.org/obo/CL_0002519 interrenal epithelial cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. http://purl.obolibrary.org/obo/CL_0002522 renal filtration cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. http://purl.obolibrary.org/obo/MONDO_0015912 MYH-9 related disease http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/MONDO_0005275 lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/MONDO_0003497 renal pelvis squamous cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A squamous cell carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation An anomaly of the vermis of cerebellum. http://purl.obolibrary.org/obo/PATO_0002096 neoplastic, non-malignant http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/CL_0002523 mesonephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. http://purl.obolibrary.org/obo/CL_0002525 metanephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0003529 acute pyelonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Sudden onset pyelonephritis. http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. http://purl.obolibrary.org/obo/PATO_0002097 neoplastic, malignant http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system An abnormality of the vasculature. http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. http://purl.obolibrary.org/obo/HP_0002664 Neoplasm http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). http://purl.obolibrary.org/obo/HP_0002667 Nephroblastoma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the immune system. http://purl.obolibrary.org/obo/HP_0002719 Recurrent infections http://purl.obolibrary.org/obo/HP_0032101 Unusual infection Increased susceptibility to infections. http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system A lymph node abnormality. http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/CL_0002543 vein endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the vein. http://purl.obolibrary.org/obo/PATO_0002124 laminar http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disease http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A disease involving the oculomotor nerve. http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. http://purl.obolibrary.org/obo/PATO_0002129 neoplastic, invasive http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone Any abnormality of bones of the arms or legs. http://purl.obolibrary.org/obo/PATO_0002132 neoplastic, non-invasive http://purl.obolibrary.org/obo/PATO_0002011 neoplastic A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. http://purl.obolibrary.org/obo/HP_0002905 Hyperphosphatemia http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration An abnormally increased phosphate concentration in the blood. http://purl.obolibrary.org/obo/PATO_0002181 displaced http://purl.obolibrary.org/obo/PATO_0000140 position A positional quality inhering in a bearer by virtue the bearer's being changed in position. http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/HP_0002907 Microscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/PATO_0002182 molecular quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. http://purl.obolibrary.org/obo/HP_0002917 Hypomagnesemia http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration An abnormally decreased magnesium concentration in the blood. http://purl.obolibrary.org/obo/MONDO_0016356 diffuse cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance http://purl.obolibrary.org/obo/PATO_0001018 physical quality A quality inhering in a bearer by virtue of its constitution. http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality An abnormality of the cerebrospinal fluid (CSF). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. http://purl.obolibrary.org/obo/CL_0002546 embryonic blood vessel endothelial progenitor cell http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/CL_0002573 Schwann cell http://purl.obolibrary.org/obo/CL_0000125 glial cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. http://purl.obolibrary.org/obo/PATO_0002226 subcylindrical http://purl.obolibrary.org/obo/PATO_0001873 cylindrical A cylindrical shape quality inhering in a bearer by virtue of the bearer's being imperfectly cylindrical or approximately cylindrical. http://purl.obolibrary.org/obo/MONDO_0003591 kidney liposarcoma http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality Absence or underdevelopment of tissue in the central nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/CL_0002584 renal cortical epithelial cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell An epithelial cell of the kidney cortex. http://purl.obolibrary.org/obo/PATO_0002266 3-D shape http://purl.obolibrary.org/obo/PATO_0000052 shape A shape that inheres in a 3 dimensional entity. http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A disease involving the peripheral nervous system. http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Abnormality originating in one or more muscles, i.e., of the set of muscles of body. http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a cortex of kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The presence of abnormal amounts of protein in the urine. http://purl.obolibrary.org/obo/PATO_0002299 tubular http://purl.obolibrary.org/obo/PATO_0002078 hollow A cylindrical shape that is hollow. http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/PATO_0002300 increased quality http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002301 decreased quality http://purl.obolibrary.org/obo/PATO_0000069 deviation (from_normal) A quality that has a value that is decreased compared to normal or average. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration An abnormally increased calcium concentration in the blood. http://purl.obolibrary.org/obo/HP_0003073 Hypoalbuminemia http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level Reduction in the concentration of albumin in the blood. http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/MONDO_0003652 acute urate nephropathy http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis Urolithiasis in which the composition of the stones is predominantly urate. http://purl.obolibrary.org/obo/CL_0005009 renal principal cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. http://purl.obolibrary.org/obo/PATO_0002302 decreased process quality http://purl.obolibrary.org/obo/PATO_0002301 decreased quality A quality of a process that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. http://purl.obolibrary.org/obo/PATO_0002303 decreased object quality http://purl.obolibrary.org/obo/PATO_0002301 decreased quality A quality of an object that has a value that is decreased compared to normal or average. http://purl.obolibrary.org/obo/PATO_0002304 increased process quality http://purl.obolibrary.org/obo/PATO_0002300 increased quality A quality of a process that has a value that is increased compared to normal or average. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria A laboratory test result which indicates free hemoglobin in the urine. http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration An increased concentration of glucose in the blood. http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron A cuboidal epithelial cell of the kidney that regulates acid/base balance. http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). http://purl.obolibrary.org/obo/PATO_0002305 increased object quality http://purl.obolibrary.org/obo/PATO_0002300 increased quality A quality of an object that has a value that is increased compared to normal or average. http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/MONDO_0003664 hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. http://purl.obolibrary.org/obo/HP_0003076 Glycosuria http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration An increased concentration of glucose in the urine. http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. http://purl.obolibrary.org/obo/PATO_0002309 fiber shaped http://purl.obolibrary.org/obo/PATO_0002226 subcylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a by virtue of the bearer's exhibiting a consistently sized and approximately round cross-section along its length, which is many times larger than its diameter. http://purl.obolibrary.org/obo/CL_0007001 skeletogenic cell http://purl.obolibrary.org/obo/CL_0000000 cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/MONDO_0003716 renal pelvis papillary urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional cell carcinoma A papillary transitional cell carcinoma that arises from the renal pelvis. http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/CL_0007004 premigratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/PATO_0002318 superelliptic http://purl.obolibrary.org/obo/PATO_0002006 2-D shape A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/MONDO_0003717 renal pelvis papillary tumor http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A papillary tumor originating in the renal pelvis. http://purl.obolibrary.org/obo/CL_0008000 non-striated muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis Autosomal recessive form of inherited ichthyosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://purl.obolibrary.org/obo/PATO_0002418 acidophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for acidic dyes under specific pH conditions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A neoplasm (disease) that involves the renal pelvis. http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://purl.obolibrary.org/obo/HP_0003127 Hypocalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration An abnormally decreased calcium concentration in the urine. http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. http://purl.obolibrary.org/obo/PATO_0002422 acinar http://purl.obolibrary.org/obo/PATO_0000141 structure Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/PATO_0002468 distensible http://purl.obolibrary.org/obo/PATO_0015008 distensibility A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0003720 kidney fibrosarcoma http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma (disease) A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell A muscle cell that is part of some visceral muscle. http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally increased serum levels of alkaline phosphatase activity. http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. http://purl.obolibrary.org/obo/HP_0003198 Myopathy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/PATO_0002505 nucleated http://purl.obolibrary.org/obo/PATO_0001404 nucleate quality A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://purl.obolibrary.org/obo/MONDO_0003721 kidney osteogenic sarcoma http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma An osteosarcoma arising from the kidney. http://purl.obolibrary.org/obo/CL_1000412 endothelial cell of arteriole http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the arteriole. http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000413 endothelial cell of artery http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell A blood vessel endothelial cell that is part of an arterial endothelium. http://purl.obolibrary.org/obo/MONDO_0003749 esophageal disease http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology Abnormal increased size of the viscera of the abdomen. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/PATO_0010001 disconnected http://purl.obolibrary.org/obo/PATO_0000141 structure A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. http://purl.obolibrary.org/obo/MONDO_0003757 paraplegia http://purl.obolibrary.org/obo/MONDO_0006496 palsy Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of the nephron. http://purl.obolibrary.org/obo/HP_0003282 Low alkaline phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally reduced serum levels of alkaline phosphatase. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://purl.obolibrary.org/obo/PATO_0015006 polymeric http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a structure by virtue of it consisting of many of repeated, similar or identical subunits, arranged in some orderly array. http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/MONDO_0003776 renal pelvis inverted papilloma http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell An epithelial cell that is part of the glomerular capsule. http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology Any anomaly in the composite material or the layered arrangement of the bony skeleton. http://purl.obolibrary.org/obo/PATO_0015008 distensibility http://purl.obolibrary.org/obo/PATO_0000141 structure A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/MONDO_0003777 renal pelvis urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. http://purl.obolibrary.org/obo/HP_0003351 Decreased circulating renin level http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin An decreased level of renin in the blood. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/PO_0025131 plant anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity An anatomical entity that is or was part of a plant. http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease A disorder in which the immune system is unable to mount an adequate immune response. http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity which determines an environmental system. http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000453 epithelial cell of intermediate tubule http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell An epithelial cell that is part of the intermediate tubule. http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell An epithelial cell that is part of the collecting duct of renal tubule. http://purl.obolibrary.org/obo/NCIT_C102469 Number of Siblings http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors An individual's total number of brothers and sisters. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/MONDO_0003785 leukopenia http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. http://purl.obolibrary.org/obo/HP_0003513 Reduced ratio of renal calcium clearance to creatinine clearance http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell An epithelial cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://purl.obolibrary.org/obo/CL_1000497 kidney cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of a kidney. http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of kidney interstitium. http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors http://purl.obolibrary.org/obo/IAO_0000030 information content entity Characteristics of a person such as education and occupation, used to describe the person's position in stratification systems, access to services, etc. http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease A disease involving the aortic valve. http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy A disease involving the articular cartilage of joint. http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal medulla. http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal pelvis. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/NCIT_C114935 Very Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 1500 grams. http://purl.obolibrary.org/obo/MONDO_0003824 hereditary kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/HP_0003581 Adult onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. http://purl.obolibrary.org/obo/CL_1000546 kidney medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell An epithelial cell that is part of a renal medulla collecting duct. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. http://purl.obolibrary.org/obo/CL_1000547 kidney inner medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell An epithelial cell that is part of some inner medullary collecting duct. http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. http://purl.obolibrary.org/obo/NCIT_C114936 Extremely Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 1000 grams. http://purl.obolibrary.org/obo/HP_0003593 Infantile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between 28 days to one year of life. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/NCIT_C114937 Ultra Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) Birth weight less than 750 grams. http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. http://purl.obolibrary.org/obo/CL_1000548 kidney outer medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell An epithelial cell that is part of an outer medullary collecting duct. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/NCIT_C117976 Ideal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A person's optimum weight as calculated by a standard methodology. http://purl.obolibrary.org/obo/HP_0003621 Juvenile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between the age of 5 and 15 years. http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000549 kidney cortex collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The first weight of a newborn obtained after birth. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease involving the connective tissue. http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The weight of a subject. http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. http://purl.obolibrary.org/obo/CL_1000597 papillary tips cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell A cell that is part of a tip of a renal papilla. http://purl.obolibrary.org/obo/HP_0003774 Stage 5 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. http://purl.obolibrary.org/obo/NCIT_C132482 Estimated Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An approximate determination of the weight of a body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018227 hypocomplementemic urticarial vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A disorder of the development of bone in which ossification is affected. http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease A disease involving the muscle tissue. http://purl.obolibrary.org/obo/NCIT_C135383 Age at Death http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which death occurred. http://purl.obolibrary.org/obo/CL_1000698 kidney resident macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A tissue-resident macrophage that is part of some kidney. http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. http://purl.obolibrary.org/obo/OBI_0002555 age group inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states an age bracket which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. http://purl.obolibrary.org/obo/CL_1000716 kidney outer medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). http://purl.obolibrary.org/obo/MONDO_0004038 dental enamel hypoplasia http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver An abnormality of the biliary system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. http://purl.obolibrary.org/obo/OBI_0002556 minimum age value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specifcation that specifies the youngest age when specifying an age range. http://purl.obolibrary.org/obo/CL_1000717 kidney outer medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000742 glomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A mesangial cell located among the glomerular capillaries in a renal corpuscle. http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell An endothelial cell that is part of some peritubular capillary. http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. http://purl.obolibrary.org/obo/HP_0004324 Increased body weight http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight Abnormally increased body weight. http://purl.obolibrary.org/obo/OBI_0002557 maximum age value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specifcation that specifies the oldest age when specifying an age range. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001107 kidney loop of Henle thin ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002558 use of medication inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a a set of medications, which, if used by an entity, makes that entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CL_1001108 kidney loop of Henle medullary thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) Anemia in which the red blood cell volume is normal. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001109 kidney loop of Henle cortical thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young (disease) http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. http://purl.obolibrary.org/obo/OBI_0002559 hospital patient inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion defines that a human being has to be a hospital patient to be suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural anomaly of the vitreous body. http://purl.obolibrary.org/obo/MONDO_0004177 benign urethral neoplasm http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. http://purl.obolibrary.org/obo/OBI_0002560 family status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more family statuses, which, if met, makes a human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta ascending limb. http://purl.obolibrary.org/obo/OBI_0002561 sex inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more sexes which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a collecting duct of renal tubule. http://purl.obolibrary.org/obo/OBI_0002562 country of residence inclusion criteria http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more countries of residence which, if met, makes a human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0004184 urethral disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urethra. http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta descending limb. http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). http://purl.obolibrary.org/obo/OBI_0002563 ethnicity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criteria that defines and states one or more ethnicities which, if met, makes an entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0004190 nephrogenic adenoma of urinary bladder http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A pericyte cell located in the kidney interstitium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0031226 Perinephric fluid collection http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/MONDO_0004323 muscular atrophy http://purl.obolibrary.org/obo/MONDO_0005336 myopathy The loss of muscle tissue due to inactivity or disease. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease or disorder that involves the digestive system. http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration Any deviation from the normal concentration of calcium in the blood circulation. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0004356 childhood multilocular cystic kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. http://purl.obolibrary.org/obo/HP_0000093 Proteinuria http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level Increased levels of protein in the urine. http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity An abnormality of alkaline phosphatase level. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/HP_0031266 Podocyte foot process effacement http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. http://purl.obolibrary.org/obo/MONDO_0004375 end stage renal failure http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal collecting system. http://purl.obolibrary.org/obo/HP_0410042 Abnormal liver morphology http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/HP_0000252 Microcephaly http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. http://purl.obolibrary.org/obo/MONDO_0004425 hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration An abnormality of magnesium ion homeostasis. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head An abnormality of the face. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/BFO_0000016 disposition A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. http://purl.obolibrary.org/obo/MONDO_0004454 cellular congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality A decreased magnitude of the sensory perception of sound. http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology Abnormal increased size of the posterior cranial fossa. http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. http://purl.obolibrary.org/obo/MONDO_0004455 classic congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology Obstruction of the flow of urine through the ureter. http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/MONDO_0000270 lower respiratory tract disease http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A disease involving the lower respiratory tract. http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. http://purl.obolibrary.org/obo/MONDO_0004464 nephrogenic adenoma of the urethra http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000508 Ptosis http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/MONDO_0000328 hyperphosphatemia (disease) http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease Abnormally high level of phosphate in the blood. http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma An angiomyolipoma occurring in childhood. http://purl.obolibrary.org/obo/MONDO_0019065 amyloidosis (disease) http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. http://purl.obolibrary.org/obo/HP_0000526 Aniridia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis A tuberculosis that occurs at body sites other than the lung. http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa An angiomyolipoma arising from the kidney. http://purl.obolibrary.org/obo/MONDO_0019105 renal nutcracker syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. http://purl.obolibrary.org/obo/HP_0000554 Uveitis http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye Inflammation of one or all portions of the uveal tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0007700 Ocular anterior segment dysgenesis http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease Degeneration of the retina. http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A malignant neoplasm involving the respiratory system http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the iris. http://purl.obolibrary.org/obo/MONDO_0019124 microscopic polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/MONDO_0000381 infiltrating renal pelvis transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma A infiltrating urothelial carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/HP_0008055 Aplasia/Hypoplasia affecting the uvea http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. http://purl.obolibrary.org/obo/MONDO_0019125 relapsing polychondritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. http://purl.obolibrary.org/obo/MONDO_0019172 aniridia http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000790 Hematuria http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/MONDO_0000384 bladder benign neoplasm http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm A benign abnormal growth of the cells that comprise the bladder. http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia Incomplete maturation or aberrant formation of the male gametes. http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system An abnormality of the skeletal system. http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency (disease) http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal dominant form of polycystic kidney disease. http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Absence or underdevelopment of the kidney. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/HP_0001396 Cholestasis Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000425 X-linked disease http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease X-linked form of disease. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/MONDO_0004732 kidney carcinoma in situ http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma in situ involving a kidney. http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the renal artery. http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/HP_0000964 Eczema http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease Autosomal dominant form of disease. http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/HP_0010442 Polydactyly http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology A congenital anomaly characterized by the presence of supernumerary fingers or toes. http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the pigmentation of the skin. http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology Abnormality of the male genital system. http://purl.obolibrary.org/obo/MONDO_0000462 eye adnexa disease http://purl.obolibrary.org/obo/MONDO_0002022 disease of orbital region A disease involving the ocular adnexa. http://purl.obolibrary.org/obo/MONDO_0004747 cleft lip (disease) http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/HP_0010550 Paraplegia http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis Severe or complete weakness of both lower extremities with sparing of the upper extremities. http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease involving leukocytes. http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001276 Hypertonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease An impairment of the structure or function of the blood vessels which carry blood away from the heart. http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis Changes in the organism associated with senescence, occurring at an accelerated rate. http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/MONDO_0004841 kidney hypertrophy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Global enlargement of the renal parenchyma in one or both kidneys. http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease A hardening of the kidney glomerulus caused by scarring of the blood vessels. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology Reduced strength of muscles. http://purl.obolibrary.org/obo/HP_0010566 Hamartoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disease http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A disease involving the upper respiratory tract. http://purl.obolibrary.org/obo/MONDO_0000494 renal fibrosis http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/HP_0030724 Central nervous system cyst A cystic lesion originating within the brain. http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology Inflammation of a joint. http://purl.obolibrary.org/obo/MONDO_0004868 biliary tract disease http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease A disease involving the biliary tree. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/MONDO_0000498 arteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MONDO_0008538 temporal arteritis An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disease http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease A neurodegenerative disease that involves the eye. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/MONDO_0000508 syndromic intellectual disability http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease A intellectual disability that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of tyrosine in the blood circulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/MONDO_0004959 plasma cell neoplasm http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0004324 Increased body weight Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/MONDO_0000557 hereditary ataxia http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia Cerebellar ataxia that is transmitted from parent to child. http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/MONDO_0004972 adenoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An abnormality of a nucleobase metabolic process. http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disease of central nervous system http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disease of the nervous system A hypersensitivity reaction type II disease that involves the central nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the upper urinary tract. http://purl.obolibrary.org/obo/MONDO_0004978 aortic stenosis http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease In the same amount or manner; to the same degree; in the role, function, or capacity of. http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disease of endocrine system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the endocrine system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the lower urinary tract. http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder Anemia, the cause of which is present at birth. http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology The presence of dilatation of the renal pelvis. http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of ear, nose and throat http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An autoimmune form of otorhinolaryngologic disease. http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An abnormality of the fourth ventricle. http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000589 autoimmune disease of musculoskeletal system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the musculoskeletal system. http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). http://purl.obolibrary.org/obo/HP_0001997 Gout http://purl.obolibrary.org/obo/HP_0001369 Arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system A functional abnormality of the immune system. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the cardiovascular system. http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disease of peripheral nervous system http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A hypersensitivity reaction type II disease that involves the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0002094 Dyspnea http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality Difficult or labored breathing. http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy A cardiomyopathy that is due to abnormalities in heart muscle cells. http://purl.obolibrary.org/obo/MONDO_0005004 clear cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019563 CREST syndrome http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. http://purl.obolibrary.org/obo/HP_0002099 Asthma http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. http://purl.obolibrary.org/obo/MONDO_0000601 autoimmune disease of urogenital tract http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the genitourinary system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern http://purl.obolibrary.org/obo/HP_0031797 Clinical course The speed at which disease manifestations appear and develop. http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/MONDO_0005006 clear cell sarcoma of kidney http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/HP_0002239 Gastrointestinal hemorrhage http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis An abnormality of the concentration of glucose in the blood. http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure http://purl.obolibrary.org/obo/MONDO_0005252 heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disease A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/HP_0002329 Drowsiness http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Excessive daytime sleepiness. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An abnormality of the concentration of glucose in the urine. http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/MONDO_0000603 autoimmune disease of cardiovascular system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the cardiovascular system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002633 Vasculitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology Inflammation of blood vessel. http://purl.obolibrary.org/obo/MONDO_0005019 diffuse scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitivity reaction disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019730 light chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes Enlargment (swelling) of a lymph node. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the regulation of body fluids. http://purl.obolibrary.org/obo/MONDO_0019734 juvenile polymyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/HP_0011034 Amyloidosis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease http://purl.obolibrary.org/obo/MONDO_0021145 disease of genitourinary system A disease involving the reproductive system. http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A benign neoplasm that involves the musculoskeletal system. http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/HP_0012531 Pain Joint pain. http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005042 head disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder A disease involving the head. http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction An abnormality of renal absorption. http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0019759 epispadias (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm involving the musculoskeletal system http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005043 hyperplasia http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm A benign neoplasm that involves the integumental system. http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019991 immunotactoid glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disorder resulting from an abnormality in the immune system. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0000654 benign connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration An abnormality of calcium concentration in the urine. http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0003674 Onset http://purl.obolibrary.org/obo/HP_0031797 Clinical course The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Differences of sex development in individuals with 46,XY karyotype. http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology A morphological abnormality of a digit, i.e., of a finger or toe. http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An autoimmune form of peripheral neuropathy. http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic peripheral neuropathy. http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the skin that is not localized to any one particular region. http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0000831 thrombotic disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Macular dystrophy that is related to a change in a gene. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/HP_0100512 Low levels of vitamin D http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/HP_0011389 Functional abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear An abnormality of the function of the inner ear. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination An abnormality of myelination of nerves in the central nervous system. http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A bone disease that results in formation or resorption abnormalities located in bone. http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disease that has its basis in the disruption of mental process. http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma that arises from glandular epithelial cells of the kidney http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/HP_0011425 Fetal ultrasound soft marker http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Bone loss due to osteoclastic activity. http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/MONDO_0000888 gastrointestinal mucositis http://purl.obolibrary.org/obo/MONDO_0020579 mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An anomaly of the control or production of movement in the central nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/MONDO_0000909 Bartter disease type 4B http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. http://purl.obolibrary.org/obo/MONDO_0000916 intestinal infectious disease http://purl.obolibrary.org/obo/MONDO_0002269 gastroenteritis An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. http://purl.obolibrary.org/obo/MONDO_0000942 corneal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. http://purl.obolibrary.org/obo/MONDO_0000968 kidney lipoma http://purl.obolibrary.org/obo/MONDO_0005106 lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. http://purl.obolibrary.org/obo/MONDO_0000980 aortic atherosclerosis (disease) http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease A atherosclerosis that involves the aorta. http://purl.obolibrary.org/obo/MONDO_0000984 thalassemia http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. http://purl.obolibrary.org/obo/MONDO_0001071 intellectual disability http://purl.obolibrary.org/obo/MONDO_0005503 developmental disorder of mental health A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. http://purl.obolibrary.org/obo/MONDO_0001072 mild pre-eclampsia http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. http://purl.obolibrary.org/obo/MONDO_0001085 interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0001166 nephritis Inflammation of the renal tubules and supporting tissues of the kidney. http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma http://purl.obolibrary.org/obo/MONDO_0004992 cancer A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cognitive, psychiatric or memory anomaly. http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0001105 renal hypertension http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0011563 Abnormal ventriculoarterial connection http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. http://purl.obolibrary.org/obo/MONDO_0001106 kidney failure http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels Defect or defects of the morphogenesis of the aorta and pulmonary arteries. http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic tumor An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis http://purl.obolibrary.org/obo/MONDO_0006939 pyelonephritis Persistent pyelonephritis. http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands A functional abnormality of the adrenal glands. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland A functional abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to type of histological abnormality. http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001134 essential hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Hypertension that presents without an identifiable cause. http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005096 squamous cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to the anatomical site of origin of the neoplasm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/MONDO_0001150 hydrocephalus http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/MONDO_0001166 nephritis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Inflammation of renal tissue. http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A functional abnormality of a skeletal muscle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0001176 lens disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A disease involving the lens of camera-type eye. http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. http://purl.obolibrary.org/obo/MONDO_0005106 lipoma http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A structural abnormality of a skeletal muscle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001184 chronic rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis Chronic form of rapidly progressive glomerulonephritis. http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease Any disease caused by a virus. http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system An abnormality of the form, structure, or size of the skeletal system. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/MONDO_0001198 acquired thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0002049 thrombocytopenia An instance of thrombocytopenia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. http://purl.obolibrary.org/obo/MONDO_0005109 HIV infectious disease http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection An infection caused by the human immunodeficiency virus. http://purl.obolibrary.org/obo/HP_0011844 Abnormal appendicular skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. http://purl.obolibrary.org/obo/MONDO_0001200 secondary hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder High blood pressure caused by an underlying medical condition. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001220 hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/HP_0011927 Short digit http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A disease involving the parathyroid gland. http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis An inflammatory process that affects the choroid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system An infection of the upper or lower respiratory tract. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that detects light. http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Paralysis of the oculomotor nerve. http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease Any condition related to a disturbance between proper intake and utilization of nourishment. http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas An anomaly of the function of the pancreas. http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ the gonad of a female organism which contains germ cells http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A chronic condition characterized by minimal or absent production of insulin by the pancreas. http://purl.obolibrary.org/obo/MONDO_0001411 synostosis http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level Deviation from normal concentration of albumin in the blood. http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disease that involves the intestine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/MONDO_0001416 female reproductive organ cancer http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney Any structural anomaly of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormal functionality of the kidney. http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Increased pressure within the pulmonary circulation due to lung or heart disorder. http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Functional system which consists of structures involved in respiration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A structural anomaly of the globe of the eye, or bulbus oculi. http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/MONDO_0001475 neutropenia http://purl.obolibrary.org/obo/MONDO_0001609 agranulocytosis A decrease in the number of neutrophils found in the blood. http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the endocrine system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A functional anomaly of the eye. http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0001476 coloboma http://purl.obolibrary.org/obo/MONDO_0005328 eye disease An abnormality in which a part of a structure in one or both eyes is missing. http://purl.obolibrary.org/obo/MONDO_0005152 hypopituitarism http://purl.obolibrary.org/obo/MONDO_0003381 pituitary gland disease A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hypoparathyroidism. http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hyperparathyroidism. http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/MONDO_0005153 cervical adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the liver. http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma http://purl.obolibrary.org/obo/MONDO_0005941 retroperitoneal cancer A carcinoma that arises from epithelial cells of the retroperitoneal space. http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hydrocephalus that is present at birth. http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/MONDO_0005156 encephalomyelitis http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease Inflammation of the brain and the spinal cord. http://purl.obolibrary.org/obo/MONDO_0005157 lymphoid neoplasm http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. http://purl.obolibrary.org/obo/MONDO_0001517 dysentery http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A structural anomaly of the nephron. http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder Genetic infertility. http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Atrophy of the kidney. http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is not part of a larger syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion An abnormal amount of urine production. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017390 methylmalonic acidemia without homocystinuria http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease A disease involving the skeletal system. http://purl.obolibrary.org/obo/MONDO_0001556 urethral obstruction (disease) http://purl.obolibrary.org/obo/MONDO_0004184 urethral disease Blockage of the normal flow of urine in the urethra. http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence http://purl.obolibrary.org/obo/MONDO_0005881 oligohydramnios (disease) A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma involving a uterus. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Functional anomaly of the kidney persisting for at least three months. http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease Abnormally high concentration of calcium in the peripheral blood. http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/MONDO_0001567 nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma http://purl.obolibrary.org/obo/MONDO_0006106 benign smooth muscle neoplasm A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0001609 agranulocytosis http://purl.obolibrary.org/obo/MONDO_0003785 leukopenia A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/MONDO_0005220 collecting duct carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma that arises from epithelial cells of the collecting duct of renal tubule http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. http://purl.obolibrary.org/obo/MONDO_0001627 dementia (disease) http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. http://purl.obolibrary.org/obo/HP_0100022 Abnormality of movement http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/MONDO_0001641 severe pre-eclampsia http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of skeleton which includes upper and lower jaw skeletons. http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. http://purl.obolibrary.org/obo/HP_0100242 Sarcoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. http://purl.obolibrary.org/obo/HP_0100324 Scleroderma http://purl.obolibrary.org/obo/HP_0001072 Thickened skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal site of the kidney. http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0001645 crescentic glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/MONDO_0001200 secondary hypertension Mild to moderate high blood pressure that is caused by an underlying medical condition. http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0100716 Self-injurious behavior http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior Aggression towards oneself. http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. http://purl.obolibrary.org/obo/MONDO_0001700 megaloblastic anemia (disease) http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia (disease) Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/UBERON_0000004 nose http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia (disease) http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the kidney. http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel Any of the smallest blood vessels connecting arterioles with venules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0000033 head http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0001870 acute poststreptococcal glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. http://purl.obolibrary.org/obo/UBERON_0000057 urethra http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. http://purl.obolibrary.org/obo/MONDO_0005247 urinary tract infection (disease) http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. http://purl.obolibrary.org/obo/MONDO_0001871 acute diffuse glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/MONDO_0005252 heart failure http://purl.obolibrary.org/obo/MONDO_0005267 heart disease Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Respiration organ that develops as an outpocketing of the esophagus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) http://purl.obolibrary.org/obo/MONDO_0001876 renal artery atheroma http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease A atherosclerosis that involves the renal artery. http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disease http://purl.obolibrary.org/obo/MONDO_0005552 ocular vascular disease A disease involving the optic choroid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A disease involving the heart and/or pericardium. http://purl.obolibrary.org/obo/MONDO_0001907 adult dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Dermatomyositis in an adult. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease A disease involving the lung. http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure A membranous fold of the heart that prevents reflux of fluid http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/MONDO_0005282 cutaneous lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/UBERON_0000947 aorta http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease or disorder of the retina. http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disease http://purl.obolibrary.org/obo/MONDO_0002356 pancreas disease A disease involving the endocrine pancreas. http://purl.obolibrary.org/obo/UBERON_0002110 gall bladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera An organ that aids digestion and stores bile produced by the liver[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/UBERON_0000959 optic chiasma http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0001967 gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. http://purl.obolibrary.org/obo/MONDO_0005294 peripheral vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0000974 neck http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) http://purl.obolibrary.org/obo/MONDO_0001969 mixed gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0000991 gonad http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/MONDO_0005298 osteoporosis http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease A interstitial lung disease that occurs during childhood. http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease Increased blood pressure in the arteries of the lungs; the etiology is unknown. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that consists of the muscular and skeletal systems. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0001007 digestive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0002004 atheroembolism of kidney http://purl.obolibrary.org/obo/MONDO_0005568 cholesterol embolism A cholesterol embolism that involves the kidney. http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://purl.obolibrary.org/obo/MONDO_0005311 atherosclerosis http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. http://purl.obolibrary.org/obo/UBERON_0001008 renal system http://purl.obolibrary.org/obo/UBERON_8450002 excretory system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is part of a larger syndrome. http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/MONDO_0002022 disease of orbital region http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the orbital region. http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/MONDO_0005336 myopathy http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. http://purl.obolibrary.org/obo/UBERON_0001161 body of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder A disease affects cognitive processes. http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Inflammation of a specific segment of glomeruli within the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein O-linked glycosylation. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/MONDO_0002049 thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the integumental system. http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. http://purl.obolibrary.org/obo/UBERON_0001224 renal pelvis http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0005365 hearing loss disorder http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the musculoskeletal system. http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002095 vascular cancer http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm A malignant neoplasm arising from the blood vessels. http://purl.obolibrary.org/obo/UBERON_0001264 pancreas http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A primary or metastatic malignant neoplasm involving the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the skin of body. http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure An organ involved in reproduction. http://purl.obolibrary.org/obo/UBERON_0001456 face http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm A malignant neoplasm involving the thyroid gland http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/MONDO_0017887 renal cell carcinoma associated with neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the renal system. http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ A female organ involved in reproduction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/MONDO_0002123 calcinosis http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0017890 tubulocystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/MONDO_0002129 bone cancer http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A none disease characterized by death of bone tissue due to a lack of blood supply. http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0001768 uvea http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. http://purl.obolibrary.org/obo/MONDO_0005381 bone disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Diseases of bones. http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A congenital disorder characterized by abnormalities in the development of the sexual characteristics. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Initial section of the oviduct through which the ova pass from the ovary to the uterus http://purl.obolibrary.org/obo/UBERON_0001769 iris http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disease A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm A malignant neoplasm involving the reproductive organ http://purl.obolibrary.org/obo/MONDO_0005387 primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0005442 type 1 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/MONDO_0002176 connective tissue cancer http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A malignant neoplasm involving the connective tissue http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). http://purl.obolibrary.org/obo/MONDO_0005443 type 2 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The division of the forebrain that develops from the foremost primary cerebral vesicle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the adrenal gland. http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0002394 bile duct A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0001908 optic tract http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome for which no cause has been identified. http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type Disorders caused by abnormalities in platelet count or function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A disease involving the bone development. http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is part of a immune system [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/UBERON_0001987 placenta http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/MONDO_0018360 neonatal lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The part of the digestive system that excludes the hepatobiliary system. http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005500 congenital disorder of glycosylation type I http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. http://purl.obolibrary.org/obo/MONDO_0002256 cervix disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. http://purl.obolibrary.org/obo/MONDO_0005501 congenital disorder of glycosylation type II http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteonecrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/MONDO_0005503 developmental disorder of mental health http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A non-neoplastic or neoplastic disorder that affects the testis or the ovary. http://purl.obolibrary.org/obo/MONDO_0018448 clear cell papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/MONDO_0005510 hydronephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://purl.obolibrary.org/obo/UBERON_0002067 dermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument http://purl.obolibrary.org/obo/UBERON_0002049 vasculature The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A disease involving the female reproductive system. http://purl.obolibrary.org/obo/MONDO_0018449 acquired cystic disease-associated renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0005516 osteochondrodysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A term referring to disorders characterized by abnormalities in the development of bones and cartilage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/OGG_0000000001 genome http://purl.obolibrary.org/obo/BFO_0000040 material entity A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. http://purl.obolibrary.org/obo/MONDO_0018463 mild phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. http://purl.obolibrary.org/obo/MONDO_0002269 gastroenteritis http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0005528 inborn vitamin metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. http://purl.obolibrary.org/obo/OGG_0000000002 gene http://purl.obolibrary.org/obo/BFO_0000040 material entity A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0018464 severe phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The soft tissue that fills the cavities of bones. http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0002273 plasma protein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder that involves plasma protein metabolism malfunction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder A vascular disorder characterized by thickening and hardening of the walls of the arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. http://purl.obolibrary.org/obo/OGG_0000000010 protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. http://purl.obolibrary.org/obo/MONDO_0005552 ocular vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder that is caused by pathologic changes in the ocular vasculature. http://purl.obolibrary.org/obo/UBERON_0002495 long bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia (disease) http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) Anemia that is characterized by increased red blood cell volume. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/MONDO_0018551 patent urachus (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. http://purl.obolibrary.org/obo/MONDO_0005556 lupus nephritis http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis Glomerulonephritis in the context of systemic lupus erythematosus. http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/OGG_0000000024 ncRNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) http://purl.obolibrary.org/obo/UBERON_0003129 skull http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. http://purl.obolibrary.org/obo/MONDO_0018552 urachal sinus http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease A disease involving the ovary. http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease A disease involving the renal artery. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/MONDO_0018553 urachal diverticulum http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/MONDO_0002289 iris disease http://purl.obolibrary.org/obo/MONDO_0002661 uveal disease A disease involving the iris. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. http://purl.obolibrary.org/obo/MONDO_0005560 brain disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disease affecting the brain or part of the brain. http://purl.obolibrary.org/obo/OGG_0000000027 other gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002300 dermis tumor http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease A benign, intermediate, or malignant neoplasm that arises from the dermis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/MONDO_0018738 benign metanephric tumour http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign neoplasm that involves the metanephros. http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Bacteria http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002305 thrombophilia http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria The genome of an organism of Proteobacteria http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/MONDO_0005564 embryonal neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Eukaryota http://purl.obolibrary.org/obo/MONDO_0005568 cholesterol embolism http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OGG_1000009606 genome of Homo sapiens http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota The genome of an organism of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0007798 vascular system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A metabolic disorder that affects the phosphate homeostasis. http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. http://purl.obolibrary.org/obo/MONDO_0005569 cartilage disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OGG_1000208964 genome of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria The genome of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type A hemorrhagic disorder due to a platelet anomaly which occurs from birth. http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the hematopoietic system. http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Bacteria http://purl.obolibrary.org/obo/UBERON_0016490 auditory system http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. http://purl.obolibrary.org/obo/MONDO_0005578 arthritic joint disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria A gene of an organism of Proteobacteria http://purl.obolibrary.org/obo/UBERON_0018707 bladder organ http://purl.obolibrary.org/obo/UBERON_0009856 sac A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0005597 cystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma http://purl.obolibrary.org/obo/MONDO_0002363 papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. http://purl.obolibrary.org/obo/MONDO_0019167 immunoglobulin a vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/BFO_0000002 continuant http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 http://purl.obolibrary.org/obo/MONDO_0005613 mesonephric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that has temporal parts and that happens, unfolds or develops through time. http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Eukaryota http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota A gene of an organism of Homo sapiens http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria A gene of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/BFO_0000017 realizable entity A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/MONDO_0002341 granulomatous angiitis http://purl.obolibrary.org/obo/MONDO_0043494 arteritis Inflammation of the arteries that is characterized by the presence of granulomas. http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a protein-coding gene disposition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. http://purl.obolibrary.org/obo/MONDO_0002342 chondromalacia http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease Pathological processes involving the chondral tissue (cartilage). http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/BFO_0000035 process boundary http://purl.obolibrary.org/obo/BFO_0000003 occurrent p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) http://purl.obolibrary.org/obo/MONDO_0005798 HIV-associated nephropathy http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition http://purl.obolibrary.org/obo/MONDO_0002356 pancreas disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease A disease involving the lymphatic part of lymphoid system. http://purl.obolibrary.org/obo/MONDO_0002363 papilloma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the nail. http://purl.obolibrary.org/obo/BFO_0000144 process profile http://purl.obolibrary.org/obo/BFO_0000015 process b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens A gene of Homo sapiens that has a ncRNA gene disposition http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/MONDO_0005845 meningoencephalitis http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. http://purl.obolibrary.org/obo/CLO_0000001 cell line cell http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 http://purl.obolibrary.org/obo/MONDO_0019340 scleroderma (disease) http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). http://purl.obolibrary.org/obo/MONDO_0002365 kidney hemangiopericytoma http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A hemangiopericytoma arising from the kidney. http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. http://purl.obolibrary.org/obo/MONDO_0019355 adult-onset Still disease http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. http://purl.obolibrary.org/obo/CLO_0000019 immortal cell line cell http://purl.obolibrary.org/obo/CLO_0000001 cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. http://purl.obolibrary.org/obo/CLO_0000031 细胞系 http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm Primary or metastatic malignant neoplasm involving the kidney. http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/MONDO_0005854 mixed connective tissue disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. http://purl.obolibrary.org/obo/MONDO_0019396 collagen type III glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/MONDO_0002385 benign cystic nephroma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/MONDO_0005864 muscle cancer http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line http://purl.obolibrary.org/obo/CLO_0000031 细胞系 A cell line that is expected to be capable of indefinite propagation in an vitro culture. http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0002386 mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. http://purl.obolibrary.org/obo/MONDO_0005872 nervous system cancer http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm A primary or metastatic malignant neoplasm involving the nervous system. http://purl.obolibrary.org/obo/MONDO_0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. http://purl.obolibrary.org/obo/RO_0002310 exposure event or process http://purl.obolibrary.org/obo/BFO_0000015 process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/ENVO_00010483 environmental material http://purl.obolibrary.org/obo/BFO_0000040 material entity A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. http://purl.obolibrary.org/obo/MONDO_0019536 typical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma http://purl.obolibrary.org/obo/MONDO_0004972 adenoma An adenoma arising from the renal cortex. http://purl.obolibrary.org/obo/MONDO_0002396 nephrogenic adenofibroma http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. http://purl.obolibrary.org/obo/MONDO_0002409 auditory system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the auditory system. http://purl.obolibrary.org/obo/MONDO_0002412 glycogen storage disease http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disease http://purl.obolibrary.org/obo/MONDO_0005560 brain disease Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. http://purl.obolibrary.org/obo/MONDO_0005881 oligohydramnios (disease) http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GAZ_00000448 geographic location http://purl.obolibrary.org/obo/BFO_0000029 site A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/MONDO_0002461 membranoproliferative glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder A disease involving the placenta. http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label http://purl.obolibrary.org/obo/IAO_0000009 datum label A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/IAO_0000007 action specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity that describes an action the bearer will take. http://purl.obolibrary.org/obo/IAO_0000009 datum label http://purl.obolibrary.org/obo/IAO_0000030 information content entity A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://purl.obolibrary.org/obo/IAO_0000017 model number http://purl.obolibrary.org/obo/IAO_0000028 symbol A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0005938 renal tuberculosis http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis Infection of the kidney due to mycobacteria. http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. http://purl.obolibrary.org/obo/MONDO_0005941 retroperitoneal cancer http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. http://purl.obolibrary.org/obo/MONDO_0011885 tubulointerstitial nephritis and uveitis syndrome http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/MONDO_0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/IAO_0000028 symbol http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/MONDO_0006022 acidosis disorder http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. http://purl.obolibrary.org/obo/MONDO_0002476 anuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Absence of urine output. http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/IAO_0000029 numeral http://purl.obolibrary.org/obo/IAO_0000028 symbol A symbol that denotes a number. http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease Autosomal recessive form of disease. http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urinary bladder. http://purl.obolibrary.org/obo/MONDO_0002512 papillary adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/IAO_0000031 integer numeral http://purl.obolibrary.org/obo/IAO_0000029 numeral a numeral that denotes an integer http://purl.obolibrary.org/obo/MONDO_0006032 cystitis http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease Inflammation of the urinary bladder. http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. http://purl.obolibrary.org/obo/MONDO_0006044 nephrosclerosis http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/IAO_0000033 directive information entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. http://purl.obolibrary.org/obo/MONDO_0006053 renal leiomyoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A leiomyoma that involves the kidney. http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/IAO_0000037 dot plot http://purl.obolibrary.org/obo/IAO_0000038 graph A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/IAO_0000309 diagram A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. http://purl.obolibrary.org/obo/IAO_0000078 curation status specification http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/MONDO_0002532 squamous cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. http://purl.obolibrary.org/obo/MONDO_0006106 benign smooth muscle neoplasm http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor A benign mesenchymal neoplasm arising from smooth muscle tissue. http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. http://purl.obolibrary.org/obo/IAO_0000079 density plot http://purl.obolibrary.org/obo/IAO_0000038 graph A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm An adenoma characterized by the presence of papillary epithelial patterns. http://purl.obolibrary.org/obo/MONDO_0006174 cortisol-producing adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/IAO_0000100 data set http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/MONDO_0002537 inverted papilloma http://purl.obolibrary.org/obo/MONDO_0002363 papilloma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. http://purl.obolibrary.org/obo/MONDO_0006209 fibroblastic neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/IAO_0000101 image http://purl.obolibrary.org/obo/IAO_0000308 figure An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. http://purl.obolibrary.org/obo/MONDO_0006260 kidney medullary carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part http://purl.obolibrary.org/obo/IAO_0000027 data item Data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A disease involving the central nervous system. http://purl.obolibrary.org/obo/MONDO_0006295 malignant urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/IAO_0000104 plan specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. http://purl.obolibrary.org/obo/MONDO_0002603 angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. http://purl.obolibrary.org/obo/MONDO_0006301 metanephric adenoma http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/IAO_0000027 data item A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/IAO_0000129 version number http://purl.obolibrary.org/obo/IAO_0000028 symbol A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002610 purpura (disease) http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder Either an isolated neoplasm or a syndrome with neoplasm as a major feature. http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/IAO_0000131 serial number http://purl.obolibrary.org/obo/IAO_0000028 symbol A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0002614 bone inflammation disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease Inflammation of the bone. http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of glycosylation. http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/IAO_0000179 histogram http://purl.obolibrary.org/obo/IAO_0000038 graph A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006406 sarcomatoid carcinoma http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. http://purl.obolibrary.org/obo/ENVO_01001434 anthropogenic ecosystem conversion process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/IAO_0000180 heatmap http://purl.obolibrary.org/obo/IAO_0000038 graph A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. http://purl.obolibrary.org/obo/MONDO_0002621 extraosseous osteosarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An osteosarcoma arising from the soft tissue. http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. http://purl.obolibrary.org/obo/GO_0140352 export from cell http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/IAO_0000181 Venn diagram http://purl.obolibrary.org/obo/IAO_0000038 graph A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. http://purl.obolibrary.org/obo/MONDO_0006432 stromal predominant kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. http://purl.obolibrary.org/obo/MF_0000073 intentionality http://purl.obolibrary.org/obo/MF_0000075 mental quality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. http://purl.obolibrary.org/obo/IAO_0000183 dendrogram http://purl.obolibrary.org/obo/IAO_0000038 graph A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/MONDO_0002657 breast disease http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease A disease involving the breast. http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/IAO_0000185 photograph http://purl.obolibrary.org/obo/IAO_0000101 image A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. http://purl.obolibrary.org/obo/MF_0000074 bodily quality http://purl.obolibrary.org/obo/BFO_0000019 quality A bodily quality is a quality that inheres in some extended organism. http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0006475 unclassified renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/IAO_0000301 citation http://purl.obolibrary.org/obo/IAO_0000300 textual entity a textual entity intended to identify a particular publication http://purl.obolibrary.org/obo/MONDO_0002661 uveal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. http://purl.obolibrary.org/obo/MF_0000075 mental quality http://purl.obolibrary.org/obo/MF_0000074 bodily quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0006485 uterine carcinosarcoma http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/MONDO_0006496 palsy http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) http://purl.obolibrary.org/obo/MONDO_0006499 hamartoma (disease) http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/IAO_0000305 document title http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that names a document http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0002728 rhabdoid tumor http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/MONDO_0006504 acquired metabolic disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/ECTO_9000266 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/HP_0031684 Renal artery atherosclerosis http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology An atherosclerotic lesion located in the renal artery. http://purl.obolibrary.org/obo/IAO_0000306 table http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/ECTO_9000364 tetracycline exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to tetracycline. http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0002729 rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. http://purl.obolibrary.org/obo/ECTO_9001334 primary alcohol exposure http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure An exposure to primary alcohol. http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/IAO_0000308 figure http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection http://purl.obolibrary.org/obo/HP_0032169 Severe infection An unusually severe viral infection. http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A kidney neoplasm that occurs during childhood. http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/IAO_0000309 diagram http://purl.obolibrary.org/obo/IAO_0000308 figure A figure that expresses one or more propositions http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/OBI_0002460 defined population inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/MONDO_0006541 epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0002782 cranial nerve palsy http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/IAO_0000310 document http://purl.obolibrary.org/obo/IAO_0000030 information content entity A collection of information content entities intended to be understood together as a whole http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/MONDO_0006607 sebaceous gland disease http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease A disease involving the sebaceous gland. http://purl.obolibrary.org/obo/MONDO_0020639 monosomy http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/HP_0033727 Diffuse lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. http://purl.obolibrary.org/obo/IAO_0000415 hypothesis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses an assertion that is intended to be tested. http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic tumor http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/HP_0033728 Mesangial proliferative lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A malignant mesenchymal neoplasm arising from adipocytes. http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. http://purl.obolibrary.org/obo/MONDO_0006637 acute kidney tubular necrosis http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. http://purl.obolibrary.org/obo/MONDO_0006639 adrenal cortex carcinoma http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum A scalar measurement datum that is the result of measuring a temporal interval http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease or disorder that involves the retroperitoneal space. http://purl.obolibrary.org/obo/MONDO_0002814 adrenal carcinoma http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer A carcinoma involving a adrenal gland. http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A disease involving the adrenal cortex. http://purl.obolibrary.org/obo/HP_0033729 Minimal mesangial lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. http://purl.obolibrary.org/obo/MONDO_0006640 adrenal gland hyperfunction http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease Excess production of adrenal cortex hormones. http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is used as directive to deliver something to a person, or organization http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033730 Membranous lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://purl.obolibrary.org/obo/HP_0033731 Focal lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm A malignant neoplasm involving the adrenal gland http://purl.obolibrary.org/obo/MONDO_0006649 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. http://purl.obolibrary.org/obo/IAO_0000572 documenting http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a document is created or added to by including the specified input in it. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/IAO_0000590 written name http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that denotes a particular in reality. http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0006651 anterior uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the iris and anterior chamber of the eye. http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://purl.obolibrary.org/obo/HP_0033732 Advanced sclerotic lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. http://purl.obolibrary.org/obo/MONDO_0002837 sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. http://purl.obolibrary.org/obo/OPMI_0000071 January http://purl.obolibrary.org/obo/OPMI_0000070 month of year The first month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/BFO_0000015 process A process that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. http://purl.obolibrary.org/obo/OPMI_0000072 February http://purl.obolibrary.org/obo/OPMI_0000070 month of year The second month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/HP_0033759 Impaired renal tubular reabsorption of magnesium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of magnesium. http://purl.obolibrary.org/obo/MONDO_0002869 heart valve disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease involving the cardial valve. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Any disorder of the joints. http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/BFO_0000040 material entity Is a material entity that is created or changed during material processing. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/HP_0033761 Xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. http://purl.obolibrary.org/obo/OPMI_0000073 March http://purl.obolibrary.org/obo/OPMI_0000070 month of year The third month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/OBI_0000066 investigation http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). http://purl.obolibrary.org/obo/MONDO_0006820 kidney cortex necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/MONDO_0002884 nail disease http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder A disease involving the nail. http://purl.obolibrary.org/obo/HP_0033774 Impaired renal tubular reabsorption of uric acid http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of uric acid. http://purl.obolibrary.org/obo/OBI_0000067 evaluant role http://purl.obolibrary.org/obo/BFO_0000023 role a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role http://purl.obolibrary.org/obo/OBI_0000075 diagnosis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/MONDO_0006821 kidney papillary necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disorder characterized by abnormal blood glucose levels. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/OPMI_0000074 April http://purl.obolibrary.org/obo/OPMI_0000070 month of year The4th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/OBI_0000079 culture medium http://purl.obolibrary.org/obo/OBI_0000047 processed material a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. http://purl.obolibrary.org/obo/OBI_0000097 participant under investigation role http://purl.obolibrary.org/obo/BFO_0000023 role A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. http://purl.obolibrary.org/obo/OBI_0000112 specimen role http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation http://purl.obolibrary.org/obo/OBI_0000181 population http://purl.obolibrary.org/obo/BFO_0000040 material entity a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/BFO_0000040 material entity An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. http://purl.obolibrary.org/obo/OBI_0000272 protocol http://purl.obolibrary.org/obo/IAO_0000104 plan specification A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. http://purl.obolibrary.org/obo/MONDO_0006832 limited scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology An anomalous structure of an artery located in the kidney. http://purl.obolibrary.org/obo/MONDO_0002917 disease of pilosebaceous unit http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the pilosebaceous unit. http://purl.obolibrary.org/obo/OPMI_0000075 May http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 5th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OPMI_0000076 June http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 6th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OBI_0000274 adding a material entity into a target http://purl.obolibrary.org/obo/OBI_0000652 material combination is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. http://purl.obolibrary.org/obo/MONDO_0006835 lipoid nephrosis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/OBI_0000275 analyte role http://purl.obolibrary.org/obo/OBI_0002444 measurand role A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. http://purl.obolibrary.org/obo/OBI_0000319 material to be added role http://purl.obolibrary.org/obo/BFO_0000023 role material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/OPMI_0000077 July http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 7th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Severe hypertension that is characterized by rapid onset of extremely high blood pressure. http://purl.obolibrary.org/obo/MONDO_0002924 smooth muscle cancer http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor A malignant neoplasm arising from smooth muscle. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/OBI_0000338 drawing a conclusion based on data http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease involving the mouth. http://purl.obolibrary.org/obo/OPMI_0000078 August http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 8th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Abnormal structure of a vein located inside the kidney parenchyma. http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/OPMI_0000079 September http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 9th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/OBI_0000339 planning http://purl.obolibrary.org/obo/BFO_0000015 process a process of creating or modifying a plan specification http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/MONDO_0002926 clear cell sarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. http://purl.obolibrary.org/obo/MONDO_0006873 nutritional deficiency disease http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000080 October http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 10th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/OBI_0000355 hypothesis driven investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation with the goal to test one or more hypothesis http://purl.obolibrary.org/obo/MONDO_0006900 perinephritis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). http://purl.obolibrary.org/obo/MONDO_0006918 posterior uveitis http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A sarcoma involving a kidney. http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/OPMI_0000081 November http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 11th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OBI_0000356 hypothesis generating investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0001166 nephritis Inflammation of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/OPMI_0000082 December http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 12th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0002933 osteosclerosis http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Abnormally high bone density. http://purl.obolibrary.org/obo/OBI_0000383 transfer function http://purl.obolibrary.org/obo/BFO_0000034 function A transfer function is a function to displace a material from one location to another. http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/HP_0033856 Cholesterol emboli within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/OPMI_0000083 day of week http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A day of a calendar week that includes covers 24 hours each day. http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm A primary or metastatic malignant neoplasm involving the cervix. http://purl.obolibrary.org/obo/OPMI_0000084 Monday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The first day of the week. http://purl.obolibrary.org/obo/OPMI_0000085 Tuesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The second day of the week. http://purl.obolibrary.org/obo/MONDO_0006939 pyelonephritis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/OBI_0000399 solid support function http://purl.obolibrary.org/obo/BFO_0000034 function A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disease of the nervous system http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0006944 renal aminoaciduria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/MONDO_0003007 childhood kidney cell carcinoma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A renal cell carcinoma that occurs during childhood. http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0033857 Intraluminal thrombi within interlobular veins http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/OBI_0000434 adding material objective http://purl.obolibrary.org/obo/OBI_0000686 material combination objective is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0006945 renal artery obstruction http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). http://purl.obolibrary.org/obo/OPMI_0000086 Wednesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The third day of the week. http://purl.obolibrary.org/obo/MONDO_0003009 hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0006640 adrenal gland hyperfunction Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/OBI_0000436 needle http://purl.obolibrary.org/obo/OBI_0000968 device A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/HP_0033858 Organized thrombi within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0003010 multilocular clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. http://purl.obolibrary.org/obo/MONDO_0006946 renal osteodystrophy http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) Abnormalities of bone mineral metabolism associated with chronic kidney disease. http://purl.obolibrary.org/obo/MONDO_0003011 mucinous tubular and spindle renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. http://purl.obolibrary.org/obo/HP_4000010 Impaired renal tubular reabsorption of bicarbonate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of bicarbonate. http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/OPMI_0000087 Thursday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fourth day of the week. http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/MONDO_0006947 renovascular hypertension (disease) http://purl.obolibrary.org/obo/MONDO_0001105 renal hypertension High blood pressure secondary to renal artery stenosis. http://purl.obolibrary.org/obo/OBI_0000437 analyte measurement objective http://purl.obolibrary.org/obo/OBI_0000441 assay objective an assay objective to determine the presence or concentration of an analyte in the evaluant http://purl.obolibrary.org/obo/MONDO_0003012 sarcomatoid renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006406 sarcomatoid carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. http://purl.obolibrary.org/obo/OPMI_0000585 payer plan period http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A period time of the payment that is covered by a payer plan for a person. http://purl.obolibrary.org/obo/MONDO_0003061 benign muscle neoplasm http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/OBI_0000441 assay objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) http://purl.obolibrary.org/obo/OPMI_0000088 Friday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fifth day of the week. http://purl.obolibrary.org/obo/MONDO_0003064 inverted transitional cell papilloma http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with the payment process defined in a payer plan http://purl.obolibrary.org/obo/OBI_0000443 analyte assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0003084 uremic neuropathy http://purl.obolibrary.org/obo/MONDO_0007008 uremia Neuropathy resulting from uremia. http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/OPMI_0000586 payer plan period start date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period starts. http://purl.obolibrary.org/obo/OPMI_0000089 Saturday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 6th day of the week. http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm A benign or malignant myomatous neoplasm arising from smooth muscle. http://purl.obolibrary.org/obo/MONDO_0003130 mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/OBI_0000444 target of material addition role http://purl.obolibrary.org/obo/BFO_0000023 role target of material addition role is a role realized by an entity into which a material is added in a material addition process http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/OPMI_0000587 payer plan period end date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period ends. http://purl.obolibrary.org/obo/MONDO_0003133 exudative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease A disease involving the calcareous tooth. http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/OBI_0000453 measure function http://purl.obolibrary.org/obo/BFO_0000034 function Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/OPMI_0000090 Sunday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 7th day of the week. http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/CL_4030012 kidney loop of Henle short descending thin limb epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the short loop (cortical) nephron limited to the outer medulla (mainly inner strip). It is known in some mammalian species that the short descending limb of the loop of Henle selectively expresses the serine protease Corin, the homeobox TF Uncx, and the urea channel Slc14a2. http://purl.obolibrary.org/obo/MONDO_0007004 type III hypersensitivity disease http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/MONDO_0003134 proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. http://purl.obolibrary.org/obo/OBI_0000457 manufacturing http://purl.obolibrary.org/obo/OBI_0000094 material processing A planned process with the objective to produce a processed material which will have a function for future use. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/MONDO_0003135 focal embolic glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. http://purl.obolibrary.org/obo/CL_4030014 kidney loop of Henle long descending thin limb inner medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the inner medulla. It is known in some mammalian species that the long descending limb of the loop of Henle in the inner medulla selectively expresses the nuclear receptor Nr2e3, the Ig kappa chain Igkc, and the secreted protein dermokine (Dmkn). SLC14A2, which expresses a urea transporter, is also expressed in the inner medulla. http://purl.obolibrary.org/obo/MONDO_0007008 uremia http://purl.obolibrary.org/obo/MONDO_0001106 kidney failure A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/MONDO_0003136 anti-basement membrane glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. http://purl.obolibrary.org/obo/OBI_0000458 manufacturing objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is the objective to manufacture a material of a certain function (device) http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/OPMI_0000092 birthday http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time the anniversary of the birth of a person http://purl.obolibrary.org/obo/CL_4030013 kidney loop of Henle long descending thin limb outer medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the outer medulla (inner stripe). It is known in some mammalian species that the long descending limb of the loop of Henle in the outer medulla selectively expresses the secreted activin-antagonist protein follistatin (Fst), the GPI-linked adhesion protein Cdh13, and the protein kinase Stk32a. http://purl.obolibrary.org/obo/MONDO_0003137 diffuse glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/MONDO_0007022 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/HP_0034836 Cystic nephroma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A benign cystic neoplasm of the kidney. http://purl.obolibrary.org/obo/OBI_0000471 study design execution http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that carries out a study design http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). http://purl.obolibrary.org/obo/OPMI_0000435 child human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/MONDO_0003138 subacute glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/HP_6000073 Renal lymphangiectasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Any abnormal sttructure of the glomerular basement membrane. http://purl.obolibrary.org/obo/OBI_0000571 manufacturer role http://purl.obolibrary.org/obo/BFO_0000023 role Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. http://purl.obolibrary.org/obo/MONDO_0003139 mesangial proliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). http://purl.obolibrary.org/obo/HP_6000076 Renal vasculitis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. http://purl.obolibrary.org/obo/OBI_0003610 reactant role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a biological or chemical entity that participates or has molecular components that participate in a chemical reaction. http://purl.obolibrary.org/obo/OBI_0000639 material separation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to transform a material entity into spatially separated components. http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality Deviation from the norm of height with respect to that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/MONDO_0003140 immune-complex glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis Any deviation from the normal concentration of a metabolite in urine. http://purl.obolibrary.org/obo/HP_0000003 Multicystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/OBI_0000652 material combination http://purl.obolibrary.org/obo/OBI_0000094 material processing is a material processing with the objective to combine two or more material entities as input into a single material entity as output. http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis A condition that is characterized by degeneration of the distal phalanges. http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, http://purl.obolibrary.org/obo/MONDO_0003150 male reproductive system disease http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A disease involving the male reproductive system. http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance http://purl.obolibrary.org/obo/HP_0000001 All The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/MONDO_0003205 renal pelvis adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A carcinoma that arises from glandular epithelial cells of the renal pelvis http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease A disease involving the thyroid gland. http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax A primary or metastatic malignant neoplasm affecting the tissues of the thorax. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/OBI_0000671 sample from organism http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism a material obtained from an organism in order to be a representative of the whole http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://purl.obolibrary.org/obo/MONDO_0003291 leiomyoma cutis http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/HP_0033861 Multilamellation of cortical peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0033862 Cortical peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0033865 Medullary peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/MONDO_0003295 leiomyomatosis http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. http://purl.obolibrary.org/obo/MONDO_0003316 nonanaplastic kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. http://purl.obolibrary.org/obo/OBI_0000678 portioning objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder Dysfunction of the urinary bladder. http://purl.obolibrary.org/obo/HP_0000010 Recurrent urinary tract infections http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology Repeated infections of the urinary tract. http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0033866 Medullary peritubular capillary erythrocyte congestion http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). http://purl.obolibrary.org/obo/MONDO_0003317 metachronous kidney Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. http://purl.obolibrary.org/obo/HP_0033867 Multilamellation of medullary peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/OBI_0000681 separation into different composition objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract An abnormality of the urinary bladder. http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0003318 mixed cell type kidney Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). http://purl.obolibrary.org/obo/OBI_0000684 specimen collection objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification A objective specification to obtain a material entity for potential use as an input during an investigation. http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/HP_0000027 Azoospermia http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis Absence of any measurable level of sperm in his semen. http://purl.obolibrary.org/obo/MONDO_0003320 blastema predominant kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/HP_0033869 Medullary peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia An abnormality of male external genitalia. http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) http://purl.obolibrary.org/obo/HP_0033870 Medullary peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/HP_0000037 Male pseudohermaphroditism http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/OBI_0000686 material combination objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to obtain an output material that contains several input materials. http://purl.obolibrary.org/obo/MONDO_0003322 epithelial predominant Wilms' tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. http://purl.obolibrary.org/obo/HP_0033871 Medullary peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/MONDO_0003330 urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Blockage of the normal flow of contents of the urinary tract. http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/MONDO_0003346 central nervous system vasculitis http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease Vasculitis affecting the blood vessels of the brain and/or spinal cord. http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction The presence of a stenotic, i.e., constricted ureter. http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/MONDO_0003373 kidney leiomyosarcoma http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. http://purl.obolibrary.org/obo/HP_0000074 Ureteropelvic junction obstruction http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. http://purl.obolibrary.org/obo/OBI_0000725 host role http://purl.obolibrary.org/obo/BFO_0000023 role host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/HP_0033872 Cortical peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/MONDO_0003381 pituitary gland disease http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disease involving the pituitary gland. http://purl.obolibrary.org/obo/OBI_0000740 material sample role http://purl.obolibrary.org/obo/OBI_0000112 specimen role A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000075 Renal duplication http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitivity reaction disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). http://purl.obolibrary.org/obo/HP_0033873 Cortical peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease A disease involving the eyelid. http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the kidney. http://purl.obolibrary.org/obo/HP_0033874 Cortical peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0003410 Wolffian duct adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the genital system. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the urinary system. http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/OBI_0000806 material maintenance objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification An objective specification maintains some or all of the qualities of a material over time. http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/HP_0033876 Arcuate vein lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/MONDO_0007191 Behcet disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/HP_0000081 Duplicated collecting system http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. http://purl.obolibrary.org/obo/HP_0033877 Arcuate vein intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0003497 renal pelvis squamous cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A squamous cell carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/HP_0033878 Arcuate vein lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OBI_0000810 informed consent process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. http://purl.obolibrary.org/obo/MONDO_0003529 acute pyelonephritis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease Sudden onset pyelonephritis. http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0000085 Horseshoe kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disease http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A disease involving the oculomotor nerve. http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/HP_0033880 Arcuate vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A developmental defect in which a kidney is located in an abnormal anatomic position. http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/OBI_0000832 measurement device http://purl.obolibrary.org/obo/OBI_0000968 device A device in which a measure function inheres. http://purl.obolibrary.org/obo/HP_0033881 Arcuate vein intimal/medial myxomatous degeneration http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Hypoplasia of the kidney. http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. http://purl.obolibrary.org/obo/OBI_0000835 manufacturer http://purl.obolibrary.org/obo/BFO_0000040 material entity A person or organization that has a manufacturer role. http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/MONDO_0003591 kidney liposarcoma http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology An abnormality of the renal tubules. http://purl.obolibrary.org/obo/HP_0033882 Arcuate vein intima/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/MONDO_0007416 Balkan nephropathy http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A disease involving the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the glomerulus. http://purl.obolibrary.org/obo/OBI_0000838 material maintenance http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to maintain some or all of the characteristics of an input material over time. http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The presence of abnormal amounts of protein in the urine. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. http://purl.obolibrary.org/obo/OBI_0000867 establishing cancer cell line http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. http://purl.obolibrary.org/obo/MONDO_0003652 acute urate nephropathy http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis Urolithiasis in which the composition of the stones is predominantly urate. http://purl.obolibrary.org/obo/MONDO_0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Accumulation of scar tissue within the glomerulus. http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria A laboratory test result which indicates free hemoglobin in the urine. http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://purl.obolibrary.org/obo/OBI_0000941 service consumer role http://purl.obolibrary.org/obo/BFO_0000023 role a role which inheres in a person who uses a service http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/HP_0000097 Focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/MONDO_0003664 hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. http://purl.obolibrary.org/obo/HP_0033885 Cortical radial artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height A height above that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. http://purl.obolibrary.org/obo/HP_0000103 Polyuria http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output An increased rate of urine production. http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Agenesis, that is, failure of the kidney to develop during embryogenesis and development. http://purl.obolibrary.org/obo/HP_0000105 Enlarged kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal increase in the size of the kidney. http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A fluid filled sac in the kidney. http://purl.obolibrary.org/obo/OBI_0000947 service provider role http://purl.obolibrary.org/obo/BFO_0000023 role is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/HP_0000108 Renal corticomedullary cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of multiple cysts at the border between the renal cortex and medulla. http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OBI_0000953 processed specimen http://purl.obolibrary.org/obo/OBI_0100051 specimen A specimen that has been intentionally physically modified. http://purl.obolibrary.org/obo/MONDO_0003716 renal pelvis papillary urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional cell carcinoma A papillary transitional cell carcinoma that arises from the renal pelvis. http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/HP_0033887 Cortical radial artery intimal/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/MONDO_0003717 renal pelvis papillary tumor http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A papillary tumor originating in the renal pelvis. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Increased number and size of the juxtaglomerular cells. http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. http://purl.obolibrary.org/obo/OBI_0000973 sequence data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm A neoplasm (disease) that involves the renal pelvis. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/HP_0000112 Nephropathy http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/MONDO_0003720 kidney fibrosarcoma http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma (disease) A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://purl.obolibrary.org/obo/OBI_0000984 dose http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. http://purl.obolibrary.org/obo/MONDO_0003721 kidney osteogenic sarcoma http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma An osteosarcoma arising from the kidney. http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of multiple cysts in both kidneys. http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/OBI_0001010 nucleic acid extract http://purl.obolibrary.org/obo/OBI_0000953 processed specimen An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. http://purl.obolibrary.org/obo/MONDO_0003749 esophageal disease http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. http://purl.obolibrary.org/obo/OBI_0001108 nucleic acid sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of nucleotides in nucleic acid sequences. http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/HP_0033891 Renal arteriolar lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/BFO_0000019 quality A phenotypic abnormality. http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. http://purl.obolibrary.org/obo/MONDO_0003757 paraplegia http://purl.obolibrary.org/obo/MONDO_0006496 palsy Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. http://purl.obolibrary.org/obo/OBI_0001137 protein sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of amino acids in protein sequences. http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality The presence of any abnormality of the genitourinary system. http://purl.obolibrary.org/obo/MONDO_0003776 renal pelvis inverted papilloma http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/HP_0033893 Renal arteriolar lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/OBI_0001151 genetically modified material http://purl.obolibrary.org/obo/OBI_0000047 processed material a material entity, organism or cell, that is the output of a genetic transformation process. http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/OBI_0001153 genetic transformation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective a material transformation objective aims to create genetically modified organism or cell http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/HP_0000122 Unilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A unilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/HP_0033894 Renal arteriolar intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0003777 renal pelvis urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/OBI_0001173 service http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/HP_0000123 Nephritis http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease A disorder in which the immune system is unable to mount an adequate immune response. http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service http://purl.obolibrary.org/obo/OBI_0001528 material service A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0007937 renal hypomagnesemia 2 http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. http://purl.obolibrary.org/obo/HP_0000125 Pelvic kidney http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/HP_0033897 Arcuate artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OBI_0001528 material service http://purl.obolibrary.org/obo/OBI_0001173 service A service which has a material entity as specified input and/or specified output. http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/MONDO_0003785 leukopenia http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. http://purl.obolibrary.org/obo/HP_0000126 Hydronephrosis http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis Severe distention of the kidney with dilation of the renal pelvis and calices. http://purl.obolibrary.org/obo/HP_0033898 Arcuate artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OBI_0001547 material analysis service http://purl.obolibrary.org/obo/OBI_0001528 material service A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/MONDO_0008054 juvenile dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders A decreased functionality of the gonad. http://purl.obolibrary.org/obo/HP_0033899 Arcuate artery lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OBI_0001557 material storage service http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease A disease involving the aortic valve. http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of head and neck. http://purl.obolibrary.org/obo/HP_0033900 Renal arteriole intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OBI_0001865 assay array http://purl.obolibrary.org/obo/OBI_0000968 device A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy A disease involving the articular cartilage of joint. http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0008104 Noonan syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Noonan syndrome caused by mutations in the PTPN11 gene. http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face An abnormality of the mouth. http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/MONDO_0003824 hereditary kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. http://purl.obolibrary.org/obo/HP_0033902 Arcuate artery endotheliosis http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OBI_0001869 Illumina BeadChip http://purl.obolibrary.org/obo/OBI_0001865 assay array An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://purl.obolibrary.org/obo/HP_0000202 Oral cleft http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/MONDO_0008263 polycystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. http://purl.obolibrary.org/obo/OBI_0001885 specimen repository organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that provides a service to store and distribute specimens http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://purl.obolibrary.org/obo/HP_0033904 Renal arteriole intima/media hyalinosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck An abnormality of the head. http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. http://purl.obolibrary.org/obo/OBI_0001891 sequencing facility organization http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization An organization that provides sequence determination service http://purl.obolibrary.org/obo/HP_0033905 Arcuate artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology Any abnormality of the size of the skull. http://purl.obolibrary.org/obo/OBI_0001898 comment on investigation http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is about any of the aspects of an investigation worth noting http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. http://purl.obolibrary.org/obo/HP_0000286 Epicanthus http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/OBI_0001900 specimen identifier assigned by specimen repository http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a specimen repository http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease involving the connective tissue. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0031703 Abnormal ear morphology An abnormality of the inner ear. http://purl.obolibrary.org/obo/HP_0033907 Renal arteriole intima/media arteriolosclerosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. http://purl.obolibrary.org/obo/OBI_0001901 specimen identifier assigned by sequencing facility http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a sequencing facility http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality http://purl.obolibrary.org/obo/HP_0031704 Abnormal ear physiology An abnormality of the sensory perception of sound. http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://purl.obolibrary.org/obo/OBI_0001904 sequencing service http://purl.obolibrary.org/obo/OBI_0001547 material analysis service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology A structural abnormality of the retina. http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/OBI_0001906 cancer cell line http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis (disease) http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease A disease involving the muscle tissue. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/MONDO_0008538 temporal arteritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/HP_0000486 Strabismus http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. http://purl.obolibrary.org/obo/OBI_0001907 immortalizing cell line transformation http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. http://purl.obolibrary.org/obo/MONDO_0008558 autoimmune thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology An abnormality of the eyelids. http://purl.obolibrary.org/obo/OBI_0001909 conclusion based on data http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is inferred from data. http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0004038 dental enamel hypoplasia http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology An abnormality in voluntary or involuntary eye movements or their control. http://purl.obolibrary.org/obo/MONDO_0008564 DiGeorge syndrome http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OBI_0001912 cell freezing medium http://purl.obolibrary.org/obo/OBI_0000047 processed material A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology An abnormality of the eyelashes. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OBI_0001930 categorical value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specification that is specifies one category out of a fixed number of nominal categories http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. http://purl.obolibrary.org/obo/HP_0000501 Glaucoma http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0008585 HELLP syndrome http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/OBI_0001933 value specification http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that specifies a value within a classification scheme or on a quantitative scale. http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Abnormality of eyesight (visual perception). http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) Anemia in which the red blood cell volume is normal. http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://purl.obolibrary.org/obo/HP_0000525 Abnormality iris morphology http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. http://purl.obolibrary.org/obo/MONDO_0004177 benign urethral neoplasm http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. http://purl.obolibrary.org/obo/OBI_0100051 specimen http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has the specimen role. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/OBI_0302859 genetically modified organism http://purl.obolibrary.org/obo/OBI_0100026 organism an organism that is the output of a genetic transformation process http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0004184 urethral disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urethra. http://purl.obolibrary.org/obo/HP_0000553 Abnormal uvea morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the uvea, the vascular layer of the eyeball. http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/OBI_0302884 extraction http://purl.obolibrary.org/obo/OBI_0600014 material component separation A material separation in which a desired component of an input material is separated from the remainder http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the ear. http://purl.obolibrary.org/obo/OBI_0302893 storage http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0004190 nephrogenic adenoma of urinary bladder http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/MONDO_0008644 velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/HP_0000726 Dementia http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0004323 muscular atrophy http://purl.obolibrary.org/obo/MONDO_0005336 myopathy The loss of muscle tissue due to inactivity or disease. http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease or disorder that involves the digestive system. http://purl.obolibrary.org/obo/OBI_0600004 human subject enrollment http://purl.obolibrary.org/obo/OBI_0001928 selection A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. http://purl.obolibrary.org/obo/MONDO_0004356 childhood multilocular cystic kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo http://purl.obolibrary.org/obo/OBI_0000011 planned process A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0004375 end stage renal failure http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. http://purl.obolibrary.org/obo/HP_0000793 Membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/OBI_0600014 material component separation http://purl.obolibrary.org/obo/OBI_0000094 material processing a material processing in which components of an input material become segregated in space http://purl.obolibrary.org/obo/MONDO_0004425 hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/MONDO_0008719 acrorenal syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome Autosomal recessive form of acrorenal syndrome. http://purl.obolibrary.org/obo/HP_0000794 IgA deposition in the glomerulus http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of immunoglobulin A deposits in the glomerulus. http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/OBI_0600024 maintaining cell culture http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A planned process with the objective to keep cells alive in a defined environment outside of an organism. http://purl.obolibrary.org/obo/MONDO_0004454 cellular congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/HP_0000799 Renal steatosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormal fat accumulation in the kidneys. http://purl.obolibrary.org/obo/MONDO_0008749 pseudohypoparathyroidism type 2 http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture http://purl.obolibrary.org/obo/OBI_0000094 material processing a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/MONDO_0004455 classic congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. http://purl.obolibrary.org/obo/OBI_0600047 sequencing assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay the uses chemical or biochemical means to infer the sequence of a biomaterial http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology Cysts of the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. http://purl.obolibrary.org/obo/OBI_0666667 nucleic acid extraction http://purl.obolibrary.org/obo/OBI_0302884 extraction a material separation to recover the nucleic acid fraction of an input material http://purl.obolibrary.org/obo/MONDO_0004464 nephrogenic adenoma of the urethra http://purl.obolibrary.org/obo/MONDO_0004191 nephrogenic adenoma A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. http://purl.obolibrary.org/obo/HP_0000804 Xanthine nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/OBI_1110022 adaptive immune receptor http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma An angiomyolipoma occurring in childhood. http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). http://purl.obolibrary.org/obo/OGMS_0000015 clinical history http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A series of statements representing health-relevant qualities of a patient and of a patient's family. http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa An angiomyolipoma arising from the kidney. http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/OGMS_0000031 disease http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the endocrine system. http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease Degeneration of the retina. http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/OGMS_0000090 treatment http://purl.obolibrary.org/obo/OGMS_0000096 health care process A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process http://purl.obolibrary.org/obo/HP_0000822 Hypertension http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. http://purl.obolibrary.org/obo/MONDO_0008831 asphyxiating thoracic dystrophy 1 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy associated with variation in the region 15q13. http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism (disease) http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. http://purl.obolibrary.org/obo/MONDO_0008854 Bardet-Biedl syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/MONDO_0008889 thromboangiitis obliterans http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm A malignant neoplasm involving the lung. http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. http://purl.obolibrary.org/obo/MONDO_0009041 craniosynostosis-mental retardation-clefting syndrome http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/PATO_0001018 physical quality A time quality inhering in a bearer by virtue of how long the bearer has existed. http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. http://purl.obolibrary.org/obo/MONDO_0009066 juvenile nephropathic cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/PATO_0000047 biological sex http://purl.obolibrary.org/obo/PATO_0001241 physical object quality 患者生理性别在特定编码体系中的代码 http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). http://purl.obolibrary.org/obo/PATO_0000383 female http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal dominant form of polycystic kidney disease. http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/PATO_0000384 male http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/MONDO_0004732 kidney carcinoma in situ http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma in situ involving a kidney. http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the renin-angiotensin system. http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/PATO_0001025 pressure http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://purl.obolibrary.org/obo/HP_0000855 Insulin resistance http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/PATO_0001374 ploidy http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. http://purl.obolibrary.org/obo/PATO_0001396 cellular quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. http://purl.obolibrary.org/obo/PATO_0001548 quality of a liquid http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. http://purl.obolibrary.org/obo/MONDO_0009215 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency. http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/PATO_0001995 organismal quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/MONDO_0004747 cleft lip (disease) http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0009303 anti-glomerular basement membrane disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/PR_000018263 amino acid chain An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin. http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/HP_0000953 Hyperpigmentation of the skin http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/PR_000001004 CD4 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease involving leukocytes. http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/HP_0000992 Cutaneous photosensitivity http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/MONDO_0004841 kidney hypertrophy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Global enlargement of the renal parenchyma in one or both kidneys. http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/MONDO_0009424 Bartter disease type 2 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. http://purl.obolibrary.org/obo/HP_0001072 Thickened skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology Laminar thickening of skin. http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disease http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A disease involving the upper respiratory tract. http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural abnormality of the fundus of the eye. http://purl.obolibrary.org/obo/PR_000025402 T cell receptor co-receptor CD8 http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. http://purl.obolibrary.org/obo/MONDO_0004868 biliary tract disease http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease A disease involving the biliary tree. http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/HP_0001103 Abnormal macular morphology http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. http://purl.obolibrary.org/obo/UO_0000003 time unit http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label A unit which is a standard measure of the dimension in which events occur in sequence. http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disease http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease A neurodegenerative disease that involves the eye. http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/MONDO_0009477 Stromme syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/VO_0000001 vaccine http://purl.obolibrary.org/obo/OBI_0000047 processed material A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly http://purl.obolibrary.org/obo/HP_0011927 Short digit Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/CHEBI_36588 cyclic pseudoketone http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/MONDO_0004959 plasma cell neoplasm http://purl.obolibrary.org/obo/MONDO_0004949 neoplasm of mature B-cells A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. http://purl.obolibrary.org/obo/MONDO_0009548 renal hypomagnesemia 5 with ocular involvement http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/DRON_00000001 clinical drug role http://purl.obolibrary.org/obo/BFO_0000023 role the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia 3 http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0004972 adenoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. http://purl.obolibrary.org/obo/OGMS_0000097 health care encounter http://purl.obolibrary.org/obo/BFO_0000015 process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/HP_0001251 Ataxia http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). http://purl.obolibrary.org/obo/MONDO_0004978 aortic stenosis http://purl.obolibrary.org/obo/MONDO_0003803 aortic valve disease In the same amount or manner; to the same degree; in the role, function, or capacity of. http://purl.obolibrary.org/obo/OGMS_0000104 diagnostic process http://purl.obolibrary.org/obo/OGMS_0000096 health care process A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/MONDO_0009613 vitamin B12-responsive methylmalonic acidemia type cblA http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/MONDO_0004987 urinary bladder neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in an entity realized by social interactions in human society. http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/MONDO_0009614 vitamin B12-responsive methylmalonic acidemia type cblB http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. http://purl.obolibrary.org/obo/HP_0001257 Spasticity http://purl.obolibrary.org/obo/HP_0001276 Hypertonia A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. http://purl.obolibrary.org/obo/OMRSE_00000033 aggregate of organizations http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/OMRSE_00000038 legal person role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/FOODON_03400361 agency food product type http://purl.obolibrary.org/obo/FOODON_00002403 food material An agency food product type is a class of food product defined by an agency or consortium. http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. http://purl.obolibrary.org/obo/GO_0140014 mitotic nuclear division http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment Loss of previously present mental abilities, generally in adults. http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the cardiovascular system. http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization http://purl.obolibrary.org/obo/GO_0030030 cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/MONDO_0005004 clear cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/HP_0001305 Dandy-Walker malformation http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon Any structural abnormality of the cerebellum. http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. http://purl.obolibrary.org/obo/MONDO_0005006 clear cell sarcoma of kidney http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. http://purl.obolibrary.org/obo/HP_0001320 Cerebellar vermis hypoplasia http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis Underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/MONDO_0005009 congestive heart failure http://purl.obolibrary.org/obo/MONDO_0005252 heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/NCIT_C25347 Height http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/NCIT_C25352 International Normalized Ratio http://purl.obolibrary.org/obo/CMO_0000035 blood measurement A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/MONDO_0002908 glucose metabolism disease A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the liver. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/MONDO_0021178 injury http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/MONDO_0009807 osteosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/HP_0001396 Cholestasis http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system Impairment of bile flow due to obstruction in bile ducts. http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm (disease) that involves the thoracic segment of trunk. http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/HP_0001417 X-linked inheritance http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A neoplasm (disease) that involves the uterus. http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/MONDO_0005019 diffuse scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A neoplasm (disease) that involves the adipose tissue. http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology An abnormality of the hair. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm A benign neoplasm that involves the zone of skin. http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology Abnormality of the nail. http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A benign neoplasm that involves the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease that involves the renal tubule. http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease http://purl.obolibrary.org/obo/MONDO_0021145 disease of genitourinary system A disease involving the reproductive system. http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart. http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0001635 Congestive heart failure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/KTAO_0000005 AKI patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of acute kidney injury (AKI). http://purl.obolibrary.org/obo/HP_0001669 Transposition of the great arteries http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. http://purl.obolibrary.org/obo/MONDO_0009894 short-rib thoracic dysplasia 6 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0005042 head disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder A disease involving the head. http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/KTAO_0000006 CKD patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of chronic kidney disease (CKD). http://purl.obolibrary.org/obo/HP_0001679 Abnormal aortic morphology http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels An abnormality of the aorta. http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/MONDO_0005043 hyperplasia http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/HP_0001710 Conotruncal defect http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0009904 Gitelman syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A disorder of the blood that is present at birth. http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the pancreas. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0020579 mucositis http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease Inflammation of the mucous membranes. http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disorder resulting from an abnormality in the immune system. http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An autosomal recessive form of PXE. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system An abnormality of the spleen. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4948 HLA-DRB1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HLA-DRB1 in human. http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. http://purl.obolibrary.org/obo/MONDO_0005058 leiomyosarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/MONDO_0005060 liposarcoma http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/MONDO_0005062 lymphoma http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/CL_4030008 pronephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/HP_0034230 Inferior crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/HP_0001877 Abnormal erythrocyte morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/HP_0034231 Sigmoid kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder http://purl.obolibrary.org/obo/MONDO_0005560 brain disease A disease that has its basis in the disruption of mental process. http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma A carcinoma that arises from glandular epithelial cells of the kidney http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. http://purl.obolibrary.org/obo/HP_0034232 Unilateral lump kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/HP_0001892 Abnormal bleeding http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma http://purl.obolibrary.org/obo/MONDO_0004992 cancer A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/HP_0034233 Disc kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which kidneys fuse along their medial borders. http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/HP_0034234 L-shaped kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/HP_0034235 Superior crossed-fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. http://purl.obolibrary.org/obo/MONDO_0010024 Beemer-Langer syndrome http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma http://purl.obolibrary.org/obo/MONDO_0002789 hemangiopericytic tumor An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. http://purl.obolibrary.org/obo/HP_0034239 Renal vein thrombosis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. http://purl.obolibrary.org/obo/HP_0001919 Acute kidney injury http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/HP_0034242 Abnormal fetal genitourinary system morphology http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/MONDO_0010029 situs inversus http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). http://purl.obolibrary.org/obo/MONDO_0005096 squamous cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/HP_0001920 Renal artery stenosis http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/CL_4030022 renal medullary fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal medulla interstitium. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/HP_0001941 Acidosis http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis Abnormal acid accumulation or depletion of base. http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/CL_4030019 kidney connecting tubule intercalated cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis http://purl.obolibrary.org/obo/HP_0001941 Acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/MONDO_0005106 lipoma http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/CL_4030020 kidney connecting tubule alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/CL_4030021 kidney connecting tubule beta-intercalated cell http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease Any disease caused by a virus. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/CL_4030025 renal cortical fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal cortical interstitium. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/HP_0001945 Fever http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Elevated body temperature due to failed thermoregulation. http://purl.obolibrary.org/obo/MONDO_0005109 HIV infectious disease http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection An infection caused by the human immunodeficiency virus. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/CL_4030031 interstitial cell http://purl.obolibrary.org/obo/CL_0000000 cell Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid Any of a class of steroid hormones that are produced in the adrenal cortex. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/CHEBI_51270 tetracenes http://purl.obolibrary.org/obo/CHEBI_51269 acenes Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/HP_0001959 Polydipsia http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior Excessive thirst manifested by excessive fluid intake. http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease Any condition related to a disturbance between proper intake and utilization of nourishment. http://purl.obolibrary.org/obo/MONDO_0010351 Fanconi anemia complementation group b http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic molecular entity containing a single carbon atom (C1). http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A chronic condition characterized by minimal or absent production of insulin by the pancreas. http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CHEBI_75772 Saccharomyces cerevisiae metabolite http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Increased pressure within the pulmonary circulation due to lung or heart disorder. http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology An abnormality that involves the tubules and interstitial tissue of the kidney. http://purl.obolibrary.org/obo/MONDO_0010503 Bartter disease type 5 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/CHEBI_15339 acceptor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the endocrine system. http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness X-linked form of Alport syndrome. http://purl.obolibrary.org/obo/HP_0001994 Renal Fanconi syndrome http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/CHEBI_16134 ammonia http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/MONDO_0005152 hypopituitarism http://purl.obolibrary.org/obo/MONDO_0003381 pituitary gland disease A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology A structural abnormality of the central nervous system. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/CHEBI_16842 formaldehyde http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/MONDO_0005153 cervical adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the viscera of the abdomen. http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CHEBI_17891 donor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the liver. http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. http://purl.obolibrary.org/obo/HP_0002013 Vomiting http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005156 encephalomyelitis http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease Inflammation of the brain and the spinal cord. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. http://purl.obolibrary.org/obo/CHEBI_18154 polysaccharide http://purl.obolibrary.org/obo/CHEBI_167559 glycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. http://purl.obolibrary.org/obo/MONDO_0005157 lymphoid neoplasm http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/HP_0002014 Diarrhea http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Abnormally increased frequency of loose or watery bowel movements. http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/MONDO_0005164 fibrosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://purl.obolibrary.org/obo/CHEBI_18248 iron atom http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/MONDO_0005165 benign neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease A disease involving the skeletal system. http://purl.obolibrary.org/obo/MONDO_0010916 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. http://purl.obolibrary.org/obo/CHEBI_23888 drug http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/MONDO_0010953 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. http://purl.obolibrary.org/obo/HP_0002020 Gastroesophageal reflux http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain http://purl.obolibrary.org/obo/HP_0012531 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. http://purl.obolibrary.org/obo/HP_0002039 Anorexia http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology A lack or loss of appetite for food (as a medical condition). http://purl.obolibrary.org/obo/HP_0002048 Renal cortical atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy Atrophy of the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0002049 Proximal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. http://purl.obolibrary.org/obo/HP_0002060 Abnormal cerebral morphology http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Abnormality of the cerebral ventricles. http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An increase in size of the ventricular system of the brain. http://purl.obolibrary.org/obo/HP_0002157 Azotemia http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/HP_0002198 Dilated fourth ventricle http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/MONDO_0005206 renal carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. http://purl.obolibrary.org/obo/HP_0002240 Hepatomegaly http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly Abnormally increased size of the liver. http://purl.obolibrary.org/obo/HP_0002242 Abnormal intestine morphology http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/CHEBI_24433 group http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/MONDO_0011112 Wilms tumor 5 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. http://purl.obolibrary.org/obo/HP_0002315 Headache http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/MONDO_0005213 uterine carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma involving a uterus. http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition A disorder involving an excessive amount of body fat. http://purl.obolibrary.org/obo/CHEBI_24621 hormone http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation An anomaly of the vermis of cerebellum. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/MONDO_0011127 Bartter disease type 1 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome http://purl.obolibrary.org/obo/CHEBI_26188 polyketide http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/CHEBI_26348 prosthetic group http://purl.obolibrary.org/obo/CHEBI_23357 cofactor A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system An abnormality of the vasculature. http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. http://purl.obolibrary.org/obo/MONDO_0005218 muscular disease http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/MONDO_0005220 collecting duct carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma that arises from epithelial cells of the collecting duct of renal tubule http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/MONDO_0005221 renal pelvis urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the kidney. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0003620 peripheral nervous system disease A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/HP_0002664 Neoplasm http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). http://purl.obolibrary.org/obo/CHEBI_28616 carbamic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/MONDO_0005247 urinary tract infection (disease) http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/HP_0002667 Nephroblastoma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the immune system. http://purl.obolibrary.org/obo/CHEBI_32600 tetracene http://purl.obolibrary.org/obo/CHEBI_35297 acene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/MONDO_0005252 heart failure http://purl.obolibrary.org/obo/MONDO_0005267 heart disease Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. http://purl.obolibrary.org/obo/HP_0002719 Recurrent infections http://purl.obolibrary.org/obo/HP_0032101 Unusual infection Increased susceptibility to infections. http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A disease involving the heart and/or pericardium. http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system A lymph node abnormality. http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/CHEBI_33252 atomic nucleus http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/MONDO_0011325 Fanconi anemia complementation group f http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease A disease involving the lung. http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone Any abnormality of bones of the arms or legs. http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-CDG http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. http://purl.obolibrary.org/obo/CHEBI_33284 nutrient http://purl.obolibrary.org/obo/CHEBI_78295 food component A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/MONDO_0005282 cutaneous lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. http://purl.obolibrary.org/obo/HP_0002905 Hyperphosphatemia http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration An abnormally increased phosphate concentration in the blood. http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/CHEBI_33696 nucleic acid http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease or disorder of the retina. http://purl.obolibrary.org/obo/HP_0002907 Microscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/MONDO_0011390 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. http://purl.obolibrary.org/obo/CHEBI_35107 azane http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0005294 peripheral vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. http://purl.obolibrary.org/obo/HP_0002917 Hypomagnesemia http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration An abnormally decreased magnesium concentration in the blood. http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug Any antimicrobial drug which is used to treat or prevent protozoal infections. http://purl.obolibrary.org/obo/MONDO_0005298 osteoporosis http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality An abnormality of the cerebrospinal fluid (CSF). http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality Absence or underdevelopment of tissue in the central nervous system. http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/CHEBI_36080 protein http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/MONDO_0005311 atherosclerosis http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/CHEBI_37527 acid http://purl.obolibrary.org/obo/CHEBI_51086 chemical role An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/MONDO_0005336 myopathy http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxin http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Abnormality originating in one or more muscles, i.e., of the set of muscles of body. http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Inflammation of a specific segment of glomeruli within the kidney. http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/CHEBI_51086 chemical role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration An abnormally increased calcium concentration in the blood. http://purl.obolibrary.org/obo/MONDO_0005365 hearing loss disorder http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/MONDO_0011456 nephronophthisis 3 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/HP_0003073 Hypoalbuminemia http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level Reduction in the concentration of albumin in the blood. http://purl.obolibrary.org/obo/CHEBI_59740 nucleophilic reagent http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration An increased concentration of glucose in the blood. http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A none disease characterized by death of bone tissue due to a lack of blood supply. http://purl.obolibrary.org/obo/CHEBI_60242 monovalent inorganic cation http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/MONDO_0005381 bone disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Diseases of bones. http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/HP_0003076 Glycosuria http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration An increased concentration of glucose in the urine. http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/MONDO_0004995 cardiovascular disease A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. http://purl.obolibrary.org/obo/MONDO_0005387 primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/MONDO_0005442 type 1 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis Autosomal recessive form of craniosynostosis. http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/HP_0003127 Hypocalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration An abnormally decreased calcium concentration in the urine. http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally increased serum levels of alkaline phosphatase activity. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/MONDO_0005443 type 2 diabetes nephropathy http://purl.obolibrary.org/obo/MONDO_0005016 diabetic nephropathy Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/MONDO_0011752 nephronophthisis 4 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/MONDO_0011756 Senior-Loken syndrome 4 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/CHEBI_77941 EC 3.5.1.4 (amidase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/HP_0003198 Myopathy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease involving the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A disease involving the bone development. http://purl.obolibrary.org/obo/MONDO_0005500 congenital disorder of glycosylation type I http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. http://purl.obolibrary.org/obo/MONDO_0005501 congenital disorder of glycosylation type II http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0011821 Meckel syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/MONDO_0005503 developmental disorder of mental health http://purl.obolibrary.org/obo/MONDO_0005084 mental disorder A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. http://purl.obolibrary.org/obo/MONDO_0005510 hydronephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology Abnormal increased size of the viscera of the abdomen. http://purl.obolibrary.org/obo/HP_0003282 Low alkaline phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally reduced serum levels of alkaline phosphatase. http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-) http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride A divalent inorganic anion resulting from the removal of two protons from ammonia. http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement (11q14.1), resulting in a block in the initial step of protein glycosylation. http://purl.obolibrary.org/obo/MONDO_0005516 osteochondrodysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A term referring to disorders characterized by abnormalities in the development of bones and cartilage. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology Any anomaly in the composite material or the layered arrangement of the bony skeleton. http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. http://purl.obolibrary.org/obo/MONDO_0005528 inborn vitamin metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/HP_0003351 Decreased circulating renin level http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin An decreased level of renin in the blood. http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/CHEBI_33658 arene http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. http://purl.obolibrary.org/obo/MONDO_0005552 ocular vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder that is caused by pathologic changes in the ocular vasculature. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/CHEBI_50313 onium cation http://purl.obolibrary.org/obo/CHEBI_50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. http://purl.obolibrary.org/obo/HP_0003513 Reduced ratio of renal calcium clearance to creatinine clearance http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/MONDO_0012184 Pierson syndrome http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/MONDO_0005556 lupus nephritis http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis Glomerulonephritis in the context of systemic lupus erythematosus. http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/HP_0003581 Adult onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/CL_0000001 primary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. http://purl.obolibrary.org/obo/MONDO_0005557 calcium metabolic disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/HP_0003593 Infantile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between 28 days to one year of life. http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia Aplastic anemia without a known cause. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/MONDO_0005558 ovarian disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease A disease involving the ovary. http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/HP_0003621 Juvenile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between the age of 5 and 15 years. http://purl.obolibrary.org/obo/CL_0000007 early embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. http://purl.obolibrary.org/obo/MONDO_0012225 Senior-Loken syndrome 5 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. http://purl.obolibrary.org/obo/CL_0000010 cultured cell http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro A cell in vitro that is or has been maintained or propagated as part of a cell culture. http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/MONDO_0005560 brain disease http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A disease affecting the brain or part of the brain. http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. http://purl.obolibrary.org/obo/MONDO_0005561 aortic disease http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) http://purl.obolibrary.org/obo/CL_0000034 stem cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/MONDO_0012266 preeclampsia/eclampsia 4 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/MONDO_0005564 embryonal neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/MONDO_0005568 cholesterol embolism http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/HP_0003774 Stage 5 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0005569 cartilage disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). http://purl.obolibrary.org/obo/CL_0000039 germ line cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease involving the hematopoietic system. http://purl.obolibrary.org/obo/MONDO_0012371 Noonan syndrome 3 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. http://purl.obolibrary.org/obo/CL_0000040 monoblast http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver An abnormality of the biliary system. http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/MONDO_0005578 arthritic joint disease http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. http://purl.obolibrary.org/obo/MONDO_0012433 Senior-Loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. http://purl.obolibrary.org/obo/MONDO_0005597 cystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/HP_0004324 Increased body weight http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight Abnormally increased body weight. http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0005605 transitional cell papilloma http://purl.obolibrary.org/obo/MONDO_0002363 papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural anomaly of the vitreous body. http://purl.obolibrary.org/obo/MONDO_0005613 mesonephric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0004970 adenocarcinoma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://purl.obolibrary.org/obo/MONDO_0012547 Noonan syndrome 4 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. http://purl.obolibrary.org/obo/MONDO_0012644 asphyxiating thoracic dystrophy 2 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell A stem cell from which all cells of the body can form. http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell with a limited number of potential fates. http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/MONDO_0012680 nephronophthisis 7 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/MONDO_0005780 hantavirus infectious disease A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. http://purl.obolibrary.org/obo/MONDO_0005798 HIV-associated nephropathy http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. http://purl.obolibrary.org/obo/CL_0000056 myoblast http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/MONDO_0012690 Noonan syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease A disease involving the lymphatic part of lymphoid system. http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration Any deviation from the normal concentration of calcium in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/CL_0000057 fibroblast http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0012695 Meckel syndrome, type 5 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/MONDO_0005845 meningoencephalitis http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0012717 renal hypomagnesemia 4 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. http://purl.obolibrary.org/obo/CL_0000064 ciliated cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that has a filiform extrusion of the cell surface. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity An abnormality of alkaline phosphatase level. http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/MONDO_0005854 mixed connective tissue disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal collecting system. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0012819 diabetic ketoacidosis http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration An abnormality of magnesium ion homeostasis. http://purl.obolibrary.org/obo/MONDO_0005864 muscle cancer http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. http://purl.obolibrary.org/obo/CL_0000067 ciliated epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology Abnormal increased size of the posterior cranial fossa. http://purl.obolibrary.org/obo/MONDO_0005872 nervous system cancer http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm A primary or metastatic malignant neoplasm involving the nervous system. http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/CL_0000068 duct epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that is part of a duct. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/MONDO_0005881 oligohydramnios (disease) http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology Obstruction of the flow of urine through the ureter. http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/MONDO_0005917 placenta disease http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder A disease involving the placenta. http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://purl.obolibrary.org/obo/MONDO_0005938 renal tuberculosis http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis Infection of the kidney due to mycobacteria. http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. http://purl.obolibrary.org/obo/CL_0000081 blood cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell found predominately in the blood. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/CL_0000083 epithelial cell of pancreas http://purl.obolibrary.org/obo/CL_0002371 somatic cell An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/HP_0007700 Ocular anterior segment dysgenesis http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://purl.obolibrary.org/obo/MONDO_0005941 retroperitoneal cancer http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). http://purl.obolibrary.org/obo/CL_0000084 T cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the iris. http://purl.obolibrary.org/obo/CL_0000092 osteoclast http://purl.obolibrary.org/obo/CL_0001035 bone cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. http://purl.obolibrary.org/obo/MONDO_0006002 urogenital tuberculosis http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/HP_0008055 Aplasia/Hypoplasia affecting the uvea http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. http://purl.obolibrary.org/obo/CL_0000094 granulocyte http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A leukocyte with abundant granules in the cytoplasm. http://purl.obolibrary.org/obo/MONDO_0006022 acidosis disorder http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil http://purl.obolibrary.org/obo/CL_0000775 neutrophil A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease Autosomal recessive form of disease. http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/CL_0000097 mast cell http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease A disease involving the urinary bladder. http://purl.obolibrary.org/obo/CL_0000113 mononuclear phagocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A vertebrate phagocyte with a single nucleus. http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia Incomplete maturation or aberrant formation of the male gametes. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/CL_0000115 endothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/MONDO_0013248 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. http://purl.obolibrary.org/obo/MONDO_0006032 cystitis http://purl.obolibrary.org/obo/MONDO_0006026 urinary bladder disease Inflammation of the urinary bladder. http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Absence or underdevelopment of the kidney. http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/CL_0000133 neurectodermal cell http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell Ectoderm destined to be nervous tissue. http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the renal artery. http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/CL_0000134 mesenchymal stem cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. http://purl.obolibrary.org/obo/MONDO_0006044 nephrosclerosis http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. http://purl.obolibrary.org/obo/CL_0000135 fibrocyte http://purl.obolibrary.org/obo/CL_0000499 stromal cell An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. http://purl.obolibrary.org/obo/HP_0010442 Polydactyly http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology A congenital anomaly characterized by the presence of supernumerary fingers or toes. http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/MONDO_0006053 renal leiomyoma http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A leiomyoma that involves the kidney. http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology Abnormality of the male genital system. http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. http://purl.obolibrary.org/obo/HP_0010550 Paraplegia http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis Severe or complete weakness of both lower extremities with sparing of the upper extremities. http://purl.obolibrary.org/obo/MONDO_0006054 reproductive system neoplasm http://purl.obolibrary.org/obo/MONDO_0005039 reproductive system disease A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/CL_0000150 glandular epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that specializes in controlled release of one or more substances. http://purl.obolibrary.org/obo/MONDO_0013379 Noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. http://purl.obolibrary.org/obo/HP_0010566 Hamartoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/MONDO_0006106 benign smooth muscle neoplasm http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor A benign mesenchymal neoplasm arising from smooth muscle tissue. http://purl.obolibrary.org/obo/MONDO_0006174 cortisol-producing adrenal cortex adenoma http://purl.obolibrary.org/obo/MONDO_0003924 adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. http://purl.obolibrary.org/obo/CL_0000163 endocrine cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/HP_0030724 Central nervous system cyst A cystic lesion originating within the brain. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0013441 asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://purl.obolibrary.org/obo/CL_0000164 enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/MONDO_0006209 fibroblastic neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/MONDO_0013442 nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. http://purl.obolibrary.org/obo/CL_0000183 contractile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/CL_0000186 myofibroblast cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/CL_0000187 muscle cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of tyrosine in the blood circulation. http://purl.obolibrary.org/obo/CL_0000192 smooth muscle cell http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0006260 kidney medullary carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. http://purl.obolibrary.org/obo/CL_0000211 electrically active cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose function is determined by the generation or the reception of an electric signal. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An abnormality of a nucleobase metabolic process. http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the upper urinary tract. http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0006295 malignant urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. http://purl.obolibrary.org/obo/CL_0000213 lining cell http://purl.obolibrary.org/obo/CL_0000215 barrier cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/MONDO_0006301 metanephric adenoma http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the lower urinary tract. http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/MONDO_0006350 papillary transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology The presence of dilatation of the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0013565 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCG gene. http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/CL_0000214 synovial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A cell located in the synovial joint. http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0006359 neoplasm with perivascular epithelioid cell differentiation http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An abnormality of the fourth ventricle. http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/CL_0000215 barrier cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell whose primary function is to prevent the transport of stuff across compartments. http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system A functional abnormality of the immune system. http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that moves by its own activities. http://purl.obolibrary.org/obo/MONDO_0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://purl.obolibrary.org/obo/MONDO_0013569 short-rib thoracic dysplasia 7 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern http://purl.obolibrary.org/obo/HP_0031797 Clinical course The speed at which disease manifestations appear and develop. http://purl.obolibrary.org/obo/MONDO_0006406 sarcomatoid carcinoma http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis An abnormality of the concentration of glucose in the blood. http://purl.obolibrary.org/obo/MONDO_0013589 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An abnormality of the concentration of glucose in the urine. http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/MONDO_0006432 stromal predominant kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. http://purl.obolibrary.org/obo/MONDO_0013717 asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/CL_0000223 endodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/MONDO_0006474 transitional cell carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the regulation of body fluids. http://purl.obolibrary.org/obo/MONDO_0013718 nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/CL_0000225 anucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that lacks a nucleus. http://purl.obolibrary.org/obo/CL_0000226 single nucleate cell http://purl.obolibrary.org/obo/CL_0002242 nucleate cell A cell with a single nucleus. http://purl.obolibrary.org/obo/MONDO_0006475 unclassified renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. http://purl.obolibrary.org/obo/HP_0011034 Amyloidosis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction An abnormality of renal absorption. http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/CL_0000232 erythrocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. http://purl.obolibrary.org/obo/MONDO_0006485 uterine carcinosarcoma http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0000233 platelet http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. http://purl.obolibrary.org/obo/MONDO_0006496 palsy http://purl.obolibrary.org/obo/MONDO_0002602 central nervous system disease A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) http://purl.obolibrary.org/obo/CL_0000234 phagocyte http://purl.obolibrary.org/obo/CL_0000473 defensive cell Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration An abnormality of calcium concentration in the urine. http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0013916 nephronophthisis 14 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. http://purl.obolibrary.org/obo/CL_0000235 macrophage http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/MONDO_0006499 hamartoma (disease) http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. http://purl.obolibrary.org/obo/MONDO_0006504 acquired metabolic disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/CL_0000236 B cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology A morphological abnormality of a digit, i.e., of a finger or toe. http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. http://purl.obolibrary.org/obo/MONDO_0006509 papillary carcinoma http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/CL_0000313 serous secreting cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the skin that is not localized to any one particular region. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0014143 Noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. http://purl.obolibrary.org/obo/CL_0000325 stuff accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/HP_0011389 Functional abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear An abnormality of the function of the inner ear. http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. http://purl.obolibrary.org/obo/MONDO_0006541 epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination An abnormality of myelination of nerves in the central nervous system. http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/CL_0000335 mesenchyme condensation cell http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. http://purl.obolibrary.org/obo/MONDO_0006607 sebaceous gland disease http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease A disease involving the sebaceous gland. http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/MONDO_0014214 short-rib thoracic dysplasia 8 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0011425 Fetal ultrasound soft marker http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/CL_0000352 epiblast cell http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/MONDO_0006617 vesiculobullous skin disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An anomaly of the control or production of movement in the central nervous system. http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. http://purl.obolibrary.org/obo/MONDO_0006637 acute kidney tubular necrosis http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell A smooth muscle cell associated with the vasculature. http://purl.obolibrary.org/obo/MONDO_0006639 adrenal cortex carcinoma http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. http://purl.obolibrary.org/obo/MONDO_0014287 short-rib thoracic dysplasia 11 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cognitive, psychiatric or memory anomaly. http://purl.obolibrary.org/obo/MONDO_0006640 adrenal gland hyperfunction http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease Excess production of adrenal cortex hormones. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://purl.obolibrary.org/obo/MONDO_0014374 nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/CL_0000365 animal zygote http://purl.obolibrary.org/obo/CL_0010017 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0006649 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0006651 anterior uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the iris and anterior chamber of the eye. http://purl.obolibrary.org/obo/CL_0000393 electrically responsive cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/MONDO_0014434 Bardet-Biedl syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/HP_0011563 Abnormal ventriculoarterial connection http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CL_0000404 electrically signaling cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. http://purl.obolibrary.org/obo/CL_0000424 excretory cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels Defect or defects of the morphogenesis of the aorta and pulmonary arteries. http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0006816 arthropathy http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease Any disorder of the joints. http://purl.obolibrary.org/obo/MONDO_0014435 Bardet-Biedl syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/MONDO_0014436 Bardet-Biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CL_0000451 dendritic cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://purl.obolibrary.org/obo/CL_0000458 serotonin secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands A functional abnormality of the adrenal glands. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014437 Bardet-Biedl syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. http://purl.obolibrary.org/obo/MONDO_0006820 kidney cortex necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/CL_0000473 defensive cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to protect the organism. http://purl.obolibrary.org/obo/MONDO_0006821 kidney papillary necrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland A functional abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014438 Bardet-Biedl syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0006832 limited scleroderma http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. http://purl.obolibrary.org/obo/CL_0000499 stromal cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/MONDO_0006835 lipoid nephrosis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to type of histological abnormality. http://purl.obolibrary.org/obo/CL_0000514 smooth muscle myoblast http://purl.obolibrary.org/obo/CL_0000056 myoblast A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014440 Bardet-Biedl syndrome 12 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder Severe hypertension that is characterized by rapid onset of extremely high blood pressure. http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease involving the mouth. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/CL_0000518 phagocyte (sensu Vertebrata) http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell A phagocyte in vertebrates that is able to phagocytosis. http://purl.obolibrary.org/obo/MONDO_0006873 nutritional deficiency disease http://purl.obolibrary.org/obo/MONDO_0005137 nutritional disorder A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0006900 perinephritis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0014441 Bardet-Biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to the anatomical site of origin of the neoplasm. http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A functional abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/CL_0002319 neural cell The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/MONDO_0006918 posterior uveitis http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A structural abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0001166 nephritis Inflammation of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0006939 pyelonephritis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system An abnormality of the form, structure, or size of the skeletal system. http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/MONDO_0006944 renal aminoaciduria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. http://purl.obolibrary.org/obo/CL_0000547 proerythroblast http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/HP_0011844 Abnormal appendicular skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/MONDO_0006945 renal artery obstruction http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/CL_0000549 basophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/MONDO_0006946 renal osteodystrophy http://purl.obolibrary.org/obo/MONDO_0005520 rickets (disease) Abnormalities of bone mineral metabolism associated with chronic kidney disease. http://purl.obolibrary.org/obo/MONDO_0014445 Bardet-Biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/MONDO_0006947 renovascular hypertension (disease) http://purl.obolibrary.org/obo/MONDO_0001105 renal hypertension High blood pressure secondary to renal artery stenosis. http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/MONDO_0014446 Bardet-Biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. http://purl.obolibrary.org/obo/HP_0011927 Short digit http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/MONDO_0014447 Bardet-Biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system An infection of the upper or lower respiratory tract. http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/CL_0000552 orthochromatic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/MONDO_0006975 smooth muscle tumor http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm A benign or malignant myomatous neoplasm arising from smooth muscle. http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas An anomaly of the function of the pancreas. http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level Deviation from normal concentration of albumin in the blood. http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/MONDO_0006858 mouth disease A disease involving the calcareous tooth. http://purl.obolibrary.org/obo/MONDO_0007004 type III hypersensitivity disease http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/MONDO_0014462 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney Any structural anomaly of the kidney. http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/MONDO_0007008 uremia http://purl.obolibrary.org/obo/MONDO_0001106 kidney failure A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_0000558 reticulocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormal functionality of the kidney. http://purl.obolibrary.org/obo/MONDO_0007022 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/CL_0000559 promonocyte http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/MONDO_0014537 nephronophthisis 19 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A structural anomaly of the globe of the eye, or bulbus oculi. http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/CL_0000566 angioblastic mesenchymal cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A mesenchymal stem cell capable of developing into blood vessel endothelium. http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A functional anomaly of the eye. http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis A condition that is characterized by degeneration of the distal phalanges. http://purl.obolibrary.org/obo/CL_0000576 monocyte http://purl.obolibrary.org/obo/CL_0011026 progenitor cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro http://purl.obolibrary.org/obo/CL_0000000 cell A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/CL_0000586 germ cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell The reproductive cell in multicellular organisms. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0014577 short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A structural anomaly of the nephron. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/MONDO_0014638 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. http://purl.obolibrary.org/obo/CL_0000623 natural killer cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Atrophy of the kidney. http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/CL_0000630 supporting cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion An abnormal amount of urine production. http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/MONDO_0014691 Noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. http://purl.obolibrary.org/obo/CL_0000648 kidney granular cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/MONDO_0014692 retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease http://purl.obolibrary.org/obo/MONDO_0000605 hypersensitivity reaction disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/CL_0000650 mesangial cell http://purl.obolibrary.org/obo/CL_0000669 pericyte cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. http://purl.obolibrary.org/obo/MONDO_0014693 Noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/MONDO_0007191 Behcet disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/CL_0000653 podocyte http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Functional anomaly of the kidney persisting for at least three months. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_0000669 pericyte cell http://purl.obolibrary.org/obo/CL_0008034 mural cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group r http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell http://purl.obolibrary.org/obo/CL_0000034 stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/CL_0000731 urothelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/MONDO_0014997 nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0007407 Cryoglobulinemic vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CL_0000763 myeloid cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. http://purl.obolibrary.org/obo/MONDO_0007416 Balkan nephropathy http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/CL_0000765 erythroblast http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0100022 Abnormality of movement http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A cell of the monocyte, granulocyte, or mast cell lineage. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_0000767 basophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/CL_0000775 neutrophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. http://purl.obolibrary.org/obo/HP_0100242 Sarcoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. http://purl.obolibrary.org/obo/HP_0100324 Scleroderma http://purl.obolibrary.org/obo/HP_0001072 Thickened skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/MONDO_0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/CL_0000782 myeloid dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/CL_0000785 mature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/CL_0000786 plasma cell http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal site of the kidney. http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses an alpha-beta T cell receptor complex. http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002420 immature T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002419 mature T cell A alpha-beta T cell that has a mature phenotype. http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://purl.obolibrary.org/obo/CL_0000805 immature single positive thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/HP_0100716 Self-injurious behavior http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior Aggression towards oneself. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. http://purl.obolibrary.org/obo/CL_0000806 DN2 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/CL_0000807 DN3 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/CL_0000808 DN4 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. http://purl.obolibrary.org/obo/MONDO_0007937 renal hypomagnesemia 2 http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/CL_0000809 double-positive, alpha-beta thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/MONDO_0015912 MYH-9 related disease http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. http://purl.obolibrary.org/obo/CL_0000814 mature NK T cell http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/UBERON_0000004 nose http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/MONDO_0005275 lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/MONDO_0008054 juvenile dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. http://purl.obolibrary.org/obo/CL_0000816 immature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/CL_0000817 precursor B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/MONDO_0008104 Noonan syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Noonan syndrome caused by mutations in the PTPN11 gene. http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/UBERON_0000033 head http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. http://purl.obolibrary.org/obo/UBERON_0000057 urethra http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. http://purl.obolibrary.org/obo/MONDO_0008263 polycystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/CL_0000825 pro-NK cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). http://purl.obolibrary.org/obo/CL_0000826 pro-B cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. http://purl.obolibrary.org/obo/MONDO_0016356 diffuse cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). http://purl.obolibrary.org/obo/CL_0000827 pro-T cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/CL_0000831 mast cell progenitor http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure A membranous fold of the heart that prevents reflux of fluid http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis (disease) http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. http://purl.obolibrary.org/obo/UBERON_0000947 aorta http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/MONDO_0008538 temporal arteritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/UBERON_0000959 optic chiasma http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0008558 autoimmune thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the myeloid lineage. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/MONDO_0008564 DiGeorge syndrome http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. http://purl.obolibrary.org/obo/UBERON_0000974 neck http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/MONDO_0008585 HELLP syndrome http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. http://purl.obolibrary.org/obo/UBERON_0000991 gonad http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/CL_0000860 classical monocyte http://purl.obolibrary.org/obo/CL_0000576 monocyte A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. http://purl.obolibrary.org/obo/UBERON_0001007 digestive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/UBERON_0001008 renal system http://purl.obolibrary.org/obo/UBERON_8450002 excretory system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). http://purl.obolibrary.org/obo/CL_0000862 suppressor macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage A macrophage that suppresses immune responses. http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/UBERON_0001161 body of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://purl.obolibrary.org/obo/CL_0000863 inflammatory macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/MONDO_0008644 velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis Autosomal recessive form of inherited ichthyosis. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/CL_0000864 tissue-resident macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/CL_0000890 alternatively activated macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/CL_0000891 foam cell http://purl.obolibrary.org/obo/CL_0000000 cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/CL_0000893 thymocyte http://purl.obolibrary.org/obo/CL_0002420 immature T cell An immature T cell located in the thymus. http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T cell http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/UBERON_0001224 renal pelvis http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/CL_0000954 small pre-B-II cell http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/UBERON_0001264 pancreas http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell http://purl.obolibrary.org/obo/CL_0000817 precursor B cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/MONDO_0008719 acrorenal syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome Autosomal recessive form of acrorenal syndrome. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/CL_0000980 plasmablast http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell http://purl.obolibrary.org/obo/CL_0000451 dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/UBERON_0001456 face http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/MONDO_0008749 pseudohypoparathyroidism type 2 http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. http://purl.obolibrary.org/obo/CL_0001007 interstitial dendritic cell http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. http://purl.obolibrary.org/obo/CL_0001035 bone cell http://purl.obolibrary.org/obo/CL_0000000 cell A connective tissue cell found in bone. http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/UBERON_0001768 uvea http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/UBERON_0001769 iris http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/MONDO_0008831 asphyxiating thoracic dystrophy 1 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy associated with variation in the region 15q13. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/CL_0002028 basophil mast progenitor cell http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism (disease) http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0018227 hypocomplementemic urticarial vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina http://purl.obolibrary.org/obo/MONDO_0008854 Bardet-Biedl syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A disorder of the development of bone in which ossification is affected. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/MONDO_0008889 thromboangiitis obliterans http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm A malignant neoplasm involving the lung. http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The division of the forebrain that develops from the foremost primary cerebral vesicle. http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). http://purl.obolibrary.org/obo/CL_0002039 immature NK T cell stage I http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/UBERON_0001908 optic tract http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0002040 immature NK T cell stage II http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. http://purl.obolibrary.org/obo/CL_0002041 immature NK T cell stage III http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/MONDO_0009041 craniosynostosis-mental retardation-clefting syndrome http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://purl.obolibrary.org/obo/UBERON_0001987 placenta http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/CL_0002042 immature NK T cell stage IV http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. http://purl.obolibrary.org/obo/MONDO_0009066 juvenile nephropathic cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from endoderm. http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/CL_0002077 ecto-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from ectoderm. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/UBERON_0002067 dermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell Epithelial cell derived from mesoderm or mesenchyme. http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell http://purl.obolibrary.org/obo/CL_0001035 bone cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000115 endothelial cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The soft tissue that fills the cavities of bones. http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell An endothelial cell found in capillaries. http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/CL_0002173 extraglomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young (disease) http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/MONDO_0009215 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/UBERON_0002495 long bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/UBERON_0003129 skull http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a monocyte (monopoiesis). http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency. http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/MONDO_0009303 anti-glomerular basement membrane disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. http://purl.obolibrary.org/obo/CL_0002242 nucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell containing at least one nucleus. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/MONDO_0009424 Bartter disease type 2 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes histamine. http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. http://purl.obolibrary.org/obo/MONDO_0009477 Stromme syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/MONDO_0009548 renal hypomagnesemia 5 with ocular involvement http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. http://purl.obolibrary.org/obo/UBERON_0007798 vascular system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia 3 http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the proximal tubule of the kidney. http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. http://purl.obolibrary.org/obo/CL_0002307 brush border cell of the proximal tubule http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/MONDO_0009613 vitamin B12-responsive methylmalonic acidemia type cblA http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. http://purl.obolibrary.org/obo/UBERON_0016490 auditory system http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/MONDO_0009614 vitamin B12-responsive methylmalonic acidemia type cblB http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/UBERON_0018707 bladder organ http://purl.obolibrary.org/obo/UBERON_0009856 sac A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/BFO_0000002 continuant http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell of the embryo. http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that has temporal parts and that happens, unfolds or develops through time. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. http://purl.obolibrary.org/obo/CL_0002371 somatic cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/CL_0002419 mature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. http://purl.obolibrary.org/obo/MONDO_0019065 amyloidosis (disease) http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. http://purl.obolibrary.org/obo/CL_0002420 immature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that has not completed T cell selection. http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://purl.obolibrary.org/obo/CL_0002425 early T lineage precursor http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/MONDO_0019105 renal nutcracker syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/BFO_0000017 realizable entity A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. http://purl.obolibrary.org/obo/BFO_0000035 process boundary http://purl.obolibrary.org/obo/BFO_0000003 occurrent p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. http://purl.obolibrary.org/obo/BFO_0000144 process profile http://purl.obolibrary.org/obo/BFO_0000015 process b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/CL_0002494 cardiocyte http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell located in the heart, including both muscle and non muscle cells. http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell An epithelial cell of the kidney. http://purl.obolibrary.org/obo/MONDO_0019124 microscopic polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/MONDO_0019125 relapsing polychondritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/CLO_0000001 cell line cell http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 http://purl.obolibrary.org/obo/CLO_0000019 immortal cell line cell http://purl.obolibrary.org/obo/CLO_0000001 cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. http://purl.obolibrary.org/obo/CLO_0000031 细胞系 http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 http://purl.obolibrary.org/obo/CL_0002519 interrenal epithelial cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. http://purl.obolibrary.org/obo/MONDO_0019172 aniridia http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line http://purl.obolibrary.org/obo/CLO_0000031 细胞系 A cell line that is expected to be capable of indefinite propagation in an vitro culture. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/MONDO_0009807 osteosarcoma (disease) http://purl.obolibrary.org/obo/MONDO_0005089 sarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. http://purl.obolibrary.org/obo/ENVO_00010483 environmental material http://purl.obolibrary.org/obo/BFO_0000040 material entity A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/CL_0002522 renal filtration cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. http://purl.obolibrary.org/obo/GAZ_00000448 geographic location http://purl.obolibrary.org/obo/BFO_0000029 site A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/CL_0002523 mesonephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/CL_0002525 metanephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label http://purl.obolibrary.org/obo/IAO_0000009 datum label A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/MONDO_0009894 short-rib thoracic dysplasia 6 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/MONDO_0009904 Gitelman syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/CL_0002543 vein endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the vein. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/IAO_0000007 action specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity that describes an action the bearer will take. http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An autosomal recessive form of PXE. http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. http://purl.obolibrary.org/obo/CL_0002546 embryonic blood vessel endothelial progenitor cell http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/IAO_0000009 datum label http://purl.obolibrary.org/obo/IAO_0000030 information content entity A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis Changes in the organism associated with senescence, occurring at an accelerated rate. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/CL_0002573 Schwann cell http://purl.obolibrary.org/obo/CL_0000125 glial cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. http://purl.obolibrary.org/obo/IAO_0000017 model number http://purl.obolibrary.org/obo/IAO_0000028 symbol A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. http://purl.obolibrary.org/obo/CL_0002584 renal cortical epithelial cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell An epithelial cell of the kidney cortex. http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/IAO_0000028 symbol http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a cortex of kidney. http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/IAO_0000029 numeral http://purl.obolibrary.org/obo/IAO_0000028 symbol A symbol that denotes a number. http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. http://purl.obolibrary.org/obo/CL_0005009 renal principal cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/MONDO_0010024 Beemer-Langer syndrome http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/IAO_0000031 integer numeral http://purl.obolibrary.org/obo/IAO_0000029 numeral a numeral that denotes an integer http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron A cuboidal epithelial cell of the kidney that regulates acid/base balance. http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. http://purl.obolibrary.org/obo/MONDO_0010029 situs inversus http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/IAO_0000033 directive information entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/CL_0007001 skeletogenic cell http://purl.obolibrary.org/obo/CL_0000000 cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/IAO_0000037 dot plot http://purl.obolibrary.org/obo/IAO_0000038 graph A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://purl.obolibrary.org/obo/CL_0007004 premigratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/IAO_0000309 diagram A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://purl.obolibrary.org/obo/IAO_0000078 curation status specification http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/CL_0008000 non-striated muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. http://purl.obolibrary.org/obo/IAO_0000079 density plot http://purl.obolibrary.org/obo/IAO_0000038 graph A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. http://purl.obolibrary.org/obo/MONDO_0019563 CREST syndrome http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell A muscle cell that is part of some visceral muscle. http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/IAO_0000100 data set http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. http://purl.obolibrary.org/obo/CL_1000412 endothelial cell of arteriole http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the arteriole. http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/IAO_0000101 image http://purl.obolibrary.org/obo/IAO_0000308 figure An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/CL_1000413 endothelial cell of artery http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell A blood vessel endothelial cell that is part of an arterial endothelium. http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part http://purl.obolibrary.org/obo/IAO_0000027 data item Data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. http://purl.obolibrary.org/obo/MONDO_0010351 Fanconi anemia complementation group b http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of the nephron. http://purl.obolibrary.org/obo/IAO_0000104 plan specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell An epithelial cell that is part of the glomerular capsule. http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/IAO_0000027 data item A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. http://purl.obolibrary.org/obo/MONDO_0019730 light chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/MONDO_0019734 juvenile polymyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. http://purl.obolibrary.org/obo/CL_1000453 epithelial cell of intermediate tubule http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell An epithelial cell that is part of the intermediate tubule. http://purl.obolibrary.org/obo/IAO_0000129 version number http://purl.obolibrary.org/obo/IAO_0000028 symbol A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. http://purl.obolibrary.org/obo/MONDO_0010503 Bartter disease type 5 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell An epithelial cell that is part of the collecting duct of renal tubule. http://purl.obolibrary.org/obo/IAO_0000131 serial number http://purl.obolibrary.org/obo/IAO_0000028 symbol A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness X-linked form of Alport syndrome. http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/IAO_0000179 histogram http://purl.obolibrary.org/obo/IAO_0000038 graph A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell An epithelial cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. http://purl.obolibrary.org/obo/CL_1000497 kidney cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of a kidney. http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://purl.obolibrary.org/obo/IAO_0000180 heatmap http://purl.obolibrary.org/obo/IAO_0000038 graph A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. http://purl.obolibrary.org/obo/MONDO_0019759 epispadias (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of kidney interstitium. http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/IAO_0000181 Venn diagram http://purl.obolibrary.org/obo/IAO_0000038 graph A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal medulla. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. http://purl.obolibrary.org/obo/IAO_0000183 dendrogram http://purl.obolibrary.org/obo/IAO_0000038 graph A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal pelvis. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. http://purl.obolibrary.org/obo/IAO_0000185 photograph http://purl.obolibrary.org/obo/IAO_0000101 image A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. http://purl.obolibrary.org/obo/MONDO_0019991 immunotactoid glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/IAO_0000301 citation http://purl.obolibrary.org/obo/IAO_0000300 textual entity a textual entity intended to identify a particular publication http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/IAO_0000305 document title http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that names a document http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). http://purl.obolibrary.org/obo/IAO_0000306 table http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/CL_1000546 kidney medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell An epithelial cell that is part of a renal medulla collecting duct. http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0001741 hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Differences of sex development in individuals with 46,XY karyotype. http://purl.obolibrary.org/obo/IAO_0000308 figure http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/CL_1000547 kidney inner medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell An epithelial cell that is part of some inner medullary collecting duct. http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/IAO_0000309 diagram http://purl.obolibrary.org/obo/IAO_0000308 figure A figure that expresses one or more propositions http://purl.obolibrary.org/obo/CL_1000548 kidney outer medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell An epithelial cell that is part of an outer medullary collecting duct. http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/CL_1000549 kidney cortex collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. http://purl.obolibrary.org/obo/CL_1000597 papillary tips cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell A cell that is part of a tip of a renal papilla. http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/IAO_0000310 document http://purl.obolibrary.org/obo/IAO_0000030 information content entity A collection of information content entities intended to be understood together as a whole http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://purl.obolibrary.org/obo/CL_1000698 kidney resident macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A tissue-resident macrophage that is part of some kidney. http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0010916 polycystic kidney disease 3 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. http://purl.obolibrary.org/obo/IAO_0000415 hypothesis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses an assertion that is intended to be tested. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic peripheral neuropathy. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_1000716 kidney outer medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum A scalar measurement datum that is the result of measuring a temporal interval http://purl.obolibrary.org/obo/MONDO_0010953 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Macular dystrophy that is related to a change in a gene. http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/CL_1000717 kidney outer medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is used as directive to deliver something to a person, or organization http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/IAO_0000572 documenting http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a document is created or added to by including the specified input in it. http://purl.obolibrary.org/obo/CL_1000742 glomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A mesangial cell located among the glomerular capillaries in a renal corpuscle. http://purl.obolibrary.org/obo/IAO_0000590 written name http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that denotes a particular in reality. http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/MONDO_0011112 Wilms tumor 5 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/BFO_0000015 process A process that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell An endothelial cell that is part of some peritubular capillary. http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/BFO_0000040 material entity Is a material entity that is created or changed during material processing. http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. http://purl.obolibrary.org/obo/OBI_0000066 investigation http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition A disorder involving an excessive amount of body fat. http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. http://purl.obolibrary.org/obo/CL_1001107 kidney loop of Henle thin ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/OBI_0000067 evaluant role http://purl.obolibrary.org/obo/BFO_0000023 role a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role http://purl.obolibrary.org/obo/OBI_0000075 diagnosis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. http://purl.obolibrary.org/obo/MONDO_0011127 Bartter disease type 1 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_1001108 kidney loop of Henle medullary thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. http://purl.obolibrary.org/obo/OBI_0000079 culture medium http://purl.obolibrary.org/obo/OBI_0000047 processed material a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. http://purl.obolibrary.org/obo/OBI_0000097 participant under investigation role http://purl.obolibrary.org/obo/BFO_0000023 role A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. http://purl.obolibrary.org/obo/OBI_0000112 specimen role http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation http://purl.obolibrary.org/obo/OBI_0000181 population http://purl.obolibrary.org/obo/BFO_0000040 material entity a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/CL_1001109 kidney loop of Henle cortical thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/BFO_0000040 material entity An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/OBI_0000272 protocol http://purl.obolibrary.org/obo/IAO_0000104 plan specification A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0000274 adding a material entity into a target http://purl.obolibrary.org/obo/OBI_0000652 material combination is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0000275 analyte role http://purl.obolibrary.org/obo/OBI_0002444 measurand role A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta ascending limb. http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/OBI_0000319 material to be added role http://purl.obolibrary.org/obo/BFO_0000023 role material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. http://purl.obolibrary.org/obo/OBI_0000338 drawing a conclusion based on data http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion http://purl.obolibrary.org/obo/OBI_0000339 planning http://purl.obolibrary.org/obo/BFO_0000015 process a process of creating or modifying a plan specification http://purl.obolibrary.org/obo/OBI_0000355 hypothesis driven investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation with the goal to test one or more hypothesis http://purl.obolibrary.org/obo/OBI_0000356 hypothesis generating investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis http://purl.obolibrary.org/obo/OBI_0000383 transfer function http://purl.obolibrary.org/obo/BFO_0000034 function A transfer function is a function to displace a material from one location to another. http://purl.obolibrary.org/obo/OBI_0000399 solid support function http://purl.obolibrary.org/obo/BFO_0000034 function A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement http://purl.obolibrary.org/obo/OBI_0000434 adding material objective http://purl.obolibrary.org/obo/OBI_0000686 material combination objective is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity http://purl.obolibrary.org/obo/OBI_0000436 needle http://purl.obolibrary.org/obo/OBI_0000968 device A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. http://purl.obolibrary.org/obo/OBI_0000437 analyte measurement objective http://purl.obolibrary.org/obo/OBI_0000441 assay objective an assay objective to determine the presence or concentration of an analyte in the evaluant http://purl.obolibrary.org/obo/OBI_0000441 assay objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) http://purl.obolibrary.org/obo/OBI_0000443 analyte assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a collecting duct of renal tubule. http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/OBI_0000444 target of material addition role http://purl.obolibrary.org/obo/BFO_0000023 role target of material addition role is a role realized by an entity into which a material is added in a material addition process http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta descending limb. http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. http://purl.obolibrary.org/obo/OBI_0000453 measure function http://purl.obolibrary.org/obo/BFO_0000034 function Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A pericyte cell located in the kidney interstitium. http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OBI_0000457 manufacturing http://purl.obolibrary.org/obo/OBI_0000094 material processing A planned process with the objective to produce a processed material which will have a function for future use. http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. http://purl.obolibrary.org/obo/OBI_0000458 manufacturing objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is the objective to manufacture a material of a certain function (device) http://purl.obolibrary.org/obo/MONDO_0011325 Fanconi anemia complementation group f http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. http://purl.obolibrary.org/obo/OBI_0000471 study design execution http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that carries out a study design http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-CDG http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. http://purl.obolibrary.org/obo/OBI_0000571 manufacturer role http://purl.obolibrary.org/obo/BFO_0000023 role Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/HP_0000093 Proteinuria http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level Increased levels of protein in the urine. http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/OBI_0000639 material separation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to transform a material entity into spatially separated components. http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. http://purl.obolibrary.org/obo/OBI_0000652 material combination http://purl.obolibrary.org/obo/OBI_0000094 material processing is a material processing with the objective to combine two or more material entities as input into a single material entity as output. http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/HP_0000252 Microcephaly http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head An abnormality of the face. http://purl.obolibrary.org/obo/OBI_0000671 sample from organism http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism a material obtained from an organism in order to be a representative of the whole http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disease that involves the intestine. http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality A decreased magnitude of the sensory perception of sound. http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/MONDO_0011390 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0006025 autosomal recessive disease Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. http://purl.obolibrary.org/obo/OBI_0000678 portioning objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/HP_0000508 Ptosis http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/MONDO_0011456 nephronophthisis 3 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. http://purl.obolibrary.org/obo/OBI_0000681 separation into different composition objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/HP_0000526 Aniridia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. http://purl.obolibrary.org/obo/OBI_0000684 specimen collection objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification A objective specification to obtain a material entity for potential use as an input during an investigation. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/HP_0000554 Uveitis http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye Inflammation of one or all portions of the uveal tract. http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hypoparathyroidism. http://purl.obolibrary.org/obo/OBI_0000686 material combination objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to obtain an output material that contains several input materials. http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis Autosomal recessive form of craniosynostosis. http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hyperparathyroidism. http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://purl.obolibrary.org/obo/OBI_0000725 host role http://purl.obolibrary.org/obo/BFO_0000023 role host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/MONDO_0011752 nephronophthisis 4 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the nervous system. http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hydrocephalus that is present at birth. http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0000740 material sample role http://purl.obolibrary.org/obo/OBI_0000112 specimen role A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/MONDO_0011756 Senior-Loken syndrome 4 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder Genetic infertility. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/HP_0000790 Hematuria http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/MONDO_0011821 Meckel syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. http://purl.obolibrary.org/obo/OBI_0000806 material maintenance objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification An objective specification maintains some or all of the qualities of a material over time. http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement (11q14.1), resulting in a block in the initial step of protein glycosylation. http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system An abnormality of the skeletal system. http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/MONDO_0017390 methylmalonic acidemia without homocystinuria http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. http://purl.obolibrary.org/obo/OBI_0000810 informed consent process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/HP_0001396 Cholestasis Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/MONDO_0012184 Pierson syndrome http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/OBI_0000832 measurement device http://purl.obolibrary.org/obo/OBI_0000968 device A device in which a measure function inheres. http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/HP_0000964 Eczema http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/OBI_0000835 manufacturer http://purl.obolibrary.org/obo/BFO_0000040 material entity A person or organization that has a manufacturer role. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia Aplastic anemia without a known cause. http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). http://purl.obolibrary.org/obo/OBI_0000838 material maintenance http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to maintain some or all of the characteristics of an input material over time. http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0012225 Senior-Loken syndrome 5 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the pigmentation of the skin. http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/OBI_0000867 establishing cancer cell line http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/MONDO_0012266 preeclampsia/eclampsia 4 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. http://purl.obolibrary.org/obo/OBI_0000941 service consumer role http://purl.obolibrary.org/obo/BFO_0000023 role a role which inheres in a person who uses a service http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. http://purl.obolibrary.org/obo/OBI_0000947 service provider role http://purl.obolibrary.org/obo/BFO_0000023 role is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/HP_0001276 Hypertonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0012371 Noonan syndrome 3 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. http://purl.obolibrary.org/obo/MONDO_0012433 Senior-Loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/OBI_0000953 processed specimen http://purl.obolibrary.org/obo/OBI_0100051 specimen A specimen that has been intentionally physically modified. http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology Reduced strength of muscles. http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. http://purl.obolibrary.org/obo/OBI_0000973 sequence data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology Inflammation of a joint. http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/MONDO_0012547 Noonan syndrome 4 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/OBI_0000984 dose http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. http://purl.obolibrary.org/obo/OBI_0001010 nucleic acid extract http://purl.obolibrary.org/obo/OBI_0000953 processed specimen An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/OBI_0001108 nucleic acid sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of nucleotides in nucleic acid sequences. http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0004324 Increased body weight Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/MONDO_0012644 asphyxiating thoracic dystrophy 2 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/OBI_0001137 protein sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of amino acids in protein sequences. http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://purl.obolibrary.org/obo/MONDO_0012680 nephronophthisis 7 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/OBI_0001151 genetically modified material http://purl.obolibrary.org/obo/OBI_0000047 processed material a material entity, organism or cell, that is the output of a genetic transformation process. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/MONDO_0012690 Noonan syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/OBI_0001153 genetic transformation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective a material transformation objective aims to create genetically modified organism or cell http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/OBI_0001173 service http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. http://purl.obolibrary.org/obo/MONDO_0012695 Meckel syndrome, type 5 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service http://purl.obolibrary.org/obo/OBI_0001528 material service A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/MONDO_0012717 renal hypomagnesemia 4 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/HP_0001997 Gout http://purl.obolibrary.org/obo/HP_0001369 Arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/OBI_0001528 material service http://purl.obolibrary.org/obo/OBI_0001173 service A service which has a material entity as specified input and/or specified output. http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/OBI_0001547 material analysis service http://purl.obolibrary.org/obo/OBI_0001528 material service A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. http://purl.obolibrary.org/obo/OBI_0001557 material storage service http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease A interstitial lung disease that occurs during childhood. http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/HP_0002094 Dyspnea http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality Difficult or labored breathing. http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/OBI_0001865 assay array http://purl.obolibrary.org/obo/OBI_0000968 device A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. http://purl.obolibrary.org/obo/MONDO_0012819 diabetic ketoacidosis http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/HP_0002099 Asthma http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/MONDO_0012848 Meckel syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is part of a larger syndrome. http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/OBI_0001869 Illumina BeadChip http://purl.obolibrary.org/obo/OBI_0001865 assay array An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/HP_0002239 Gastrointestinal hemorrhage http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://purl.obolibrary.org/obo/HP_0002329 Drowsiness http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Excessive daytime sleepiness. http://purl.obolibrary.org/obo/HP_0002633 Vasculitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology Inflammation of blood vessel. http://purl.obolibrary.org/obo/OBI_0001885 specimen repository organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that provides a service to store and distribute specimens http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes Enlargment (swelling) of a lymph node. http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein O-linked glycosylation. http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/OBI_0001891 sequencing facility organization http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization An organization that provides sequence determination service http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. http://purl.obolibrary.org/obo/OBI_0001898 comment on investigation http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is about any of the aspects of an investigation worth noting http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/HP_0012531 Pain Joint pain. http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. http://purl.obolibrary.org/obo/OBI_0001900 specimen identifier assigned by specimen repository http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a specimen repository http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/OBI_0001901 specimen identifier assigned by sequencing facility http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a sequencing facility http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the skin of body. http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/OBI_0001904 sequencing service http://purl.obolibrary.org/obo/OBI_0001547 material analysis service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0017887 renal cell carcinoma associated with neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/HP_0003674 Onset http://purl.obolibrary.org/obo/HP_0031797 Clinical course The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/OBI_0001906 cancer cell line http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/MONDO_0013163 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017890 tubulocystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/OBI_0001907 immortalizing cell line transformation http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. http://purl.obolibrary.org/obo/MONDO_0013248 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0001909 conclusion based on data http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is inferred from data. http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/OBI_0001912 cell freezing medium http://purl.obolibrary.org/obo/OBI_0000047 processed material A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. http://purl.obolibrary.org/obo/HP_0100512 Low levels of vitamin D http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/OBI_0001930 categorical value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specification that is specifies one category out of a fixed number of nominal categories http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/MONDO_0013379 Noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/OBI_0001933 value specification http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that specifies a value within a classification scheme or on a quantitative scale. http://purl.obolibrary.org/obo/MONDO_0013441 asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/MONDO_0013442 nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/OBI_0100051 specimen http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has the specimen role. http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. http://purl.obolibrary.org/obo/OBI_0302859 genetically modified organism http://purl.obolibrary.org/obo/OBI_0100026 organism an organism that is the output of a genetic transformation process http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome for which no cause has been identified. http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/OBI_0302884 extraction http://purl.obolibrary.org/obo/OBI_0600014 material component separation A material separation in which a desired component of an input material is separated from the remainder http://purl.obolibrary.org/obo/MONDO_0018360 neonatal lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/OBI_0302893 storage http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. http://purl.obolibrary.org/obo/MONDO_0013565 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Fanconi anemia caused by mutations of the FANCG gene. http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteonecrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. http://purl.obolibrary.org/obo/MONDO_0018448 clear cell papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/MONDO_0013569 short-rib thoracic dysplasia 7 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/MONDO_0013589 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. http://purl.obolibrary.org/obo/OBI_0600004 human subject enrollment http://purl.obolibrary.org/obo/OBI_0001928 selection A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. http://purl.obolibrary.org/obo/MONDO_0018449 acquired cystic disease-associated renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://purl.obolibrary.org/obo/MONDO_0013717 asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/MONDO_0013718 nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/MONDO_0018463 mild phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo http://purl.obolibrary.org/obo/OBI_0000011 planned process A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. http://purl.obolibrary.org/obo/MONDO_0018464 severe phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/MONDO_0005334 hereditary nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. http://purl.obolibrary.org/obo/OBI_0600014 material component separation http://purl.obolibrary.org/obo/OBI_0000094 material processing a material processing in which components of an input material become segregated in space http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/MONDO_0013916 nephronophthisis 14 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that detects light. http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. http://purl.obolibrary.org/obo/OBI_0600024 maintaining cell culture http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A planned process with the objective to keep cells alive in a defined environment outside of an organism. http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture http://purl.obolibrary.org/obo/OBI_0000094 material processing a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/MONDO_0013917 nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. http://purl.obolibrary.org/obo/MONDO_0018551 patent urachus (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. http://purl.obolibrary.org/obo/OBI_0600047 sequencing assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay the uses chemical or biochemical means to infer the sequence of a biomaterial http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ the gonad of a female organism which contains germ cells http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/MONDO_0018552 urachal sinus http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. http://purl.obolibrary.org/obo/MONDO_0018553 urachal diverticulum http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. http://purl.obolibrary.org/obo/MONDO_0014143 Noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. http://purl.obolibrary.org/obo/OBI_0666667 nucleic acid extraction http://purl.obolibrary.org/obo/OBI_0302884 extraction a material separation to recover the nucleic acid fraction of an input material http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/OBI_1110022 adaptive immune receptor http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. http://purl.obolibrary.org/obo/OGMS_0000015 clinical history http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A series of statements representing health-relevant qualities of a patient and of a patient's family. http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Functional system which consists of structures involved in respiration. http://purl.obolibrary.org/obo/MONDO_0014214 short-rib thoracic dysplasia 8 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. http://purl.obolibrary.org/obo/OGMS_0000031 disease http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/MONDO_0018738 benign metanephric tumour http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign neoplasm that involves the metanephros. http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/OGMS_0000090 treatment http://purl.obolibrary.org/obo/OGMS_0000096 health care process A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/MONDO_0014287 short-rib thoracic dysplasia 11 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/PATO_0001018 physical quality A time quality inhering in a bearer by virtue of how long the bearer has existed. http://purl.obolibrary.org/obo/MONDO_0014374 nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://purl.obolibrary.org/obo/PATO_0000047 biological sex http://purl.obolibrary.org/obo/PATO_0001241 physical object quality 患者生理性别在特定编码体系中的代码 http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type A hemorrhagic disorder due to a platelet anomaly which occurs from birth. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. http://purl.obolibrary.org/obo/MONDO_0014434 Bardet-Biedl syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/MONDO_0014435 Bardet-Biedl syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://purl.obolibrary.org/obo/MONDO_0019167 immunoglobulin a vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/PATO_0000383 female http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/MONDO_0014436 Bardet-Biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. http://purl.obolibrary.org/obo/MONDO_0014437 Bardet-Biedl syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/PATO_0000384 male http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/MONDO_0014438 Bardet-Biedl syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/PATO_0001025 pressure http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/PATO_0001374 ploidy http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the nail. http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://purl.obolibrary.org/obo/MONDO_0014440 Bardet-Biedl syndrome 12 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. http://purl.obolibrary.org/obo/MONDO_0014441 Bardet-Biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0019340 scleroderma (disease) http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). http://purl.obolibrary.org/obo/PATO_0001396 cellular quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/MONDO_0019355 adult-onset Still disease http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. http://purl.obolibrary.org/obo/MONDO_0014445 Bardet-Biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. http://purl.obolibrary.org/obo/PATO_0001548 quality of a liquid http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/MONDO_0014446 Bardet-Biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. http://purl.obolibrary.org/obo/MONDO_0019396 collagen type III glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. http://purl.obolibrary.org/obo/MONDO_0014447 Bardet-Biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. http://purl.obolibrary.org/obo/MONDO_0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. http://purl.obolibrary.org/obo/MONDO_0014462 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PATO_0001995 organismal quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/MONDO_0014537 nephronophthisis 19 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. http://purl.obolibrary.org/obo/MONDO_0019536 typical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/MONDO_0005363 focal segmental glomerulosclerosis Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/PR_000018263 amino acid chain An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/MONDO_0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/MONDO_0014577 short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_000001004 CD4 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0014638 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of skeleton which includes upper and lower jaw skeletons. http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. http://purl.obolibrary.org/obo/PR_000025402 T cell receptor co-receptor CD8 http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/MONDO_0014691 Noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. http://purl.obolibrary.org/obo/UO_0000003 time unit http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label A unit which is a standard measure of the dimension in which events occur in sequence. http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel Any of the smallest blood vessels connecting arterioles with venules. http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/MONDO_0014692 retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. http://purl.obolibrary.org/obo/VO_0000001 vaccine http://purl.obolibrary.org/obo/OBI_0000047 processed material A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/MONDO_0014693 Noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/CHEBI_36588 cyclic pseudoketone http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. http://purl.obolibrary.org/obo/DRON_00000001 clinical drug role http://purl.obolibrary.org/obo/BFO_0000023 role the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Respiration organ that develops as an outpocketing of the esophagus. http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group r http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGMS_0000097 health care encounter http://purl.obolibrary.org/obo/BFO_0000015 process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. http://purl.obolibrary.org/obo/OGMS_0000104 diagnostic process http://purl.obolibrary.org/obo/OGMS_0000096 health care process A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/MONDO_0014997 nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in an entity realized by social interactions in human society. http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/OMRSE_00000033 aggregate of organizations http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems http://purl.obolibrary.org/obo/UBERON_0002110 gall bladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera An organ that aids digestion and stores bile produced by the liver[WP]. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/OMRSE_00000038 legal person role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/FOODON_03400361 agency food product type http://purl.obolibrary.org/obo/FOODON_00002403 food material An agency food product type is a class of food product defined by an agency or consortium. http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/GO_0140014 mitotic nuclear division http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization http://purl.obolibrary.org/obo/GO_0030030 cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/NCIT_C25347 Height http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder Either an isolated neoplasm or a syndrome with neoplasm as a major feature. http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/NCIT_C25352 International Normalized Ratio http://purl.obolibrary.org/obo/CMO_0000035 blood measurement A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of glycosylation. http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/ENVO_01001434 anthropogenic ecosystem conversion process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://purl.obolibrary.org/obo/MONDO_0021178 injury http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/GO_0140352 export from cell http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. http://purl.obolibrary.org/obo/MONDO_0015912 MYH-9 related disease http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm (disease) that involves the thoracic segment of trunk. http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/MONDO_0005275 lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/MF_0000073 intentionality http://purl.obolibrary.org/obo/MF_0000075 mental quality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A neoplasm (disease) that involves the uterus. http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/MF_0000074 bodily quality http://purl.obolibrary.org/obo/BFO_0000019 quality A bodily quality is a quality that inheres in some extended organism. http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A neoplasm (disease) that involves the adipose tissue. http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm A benign neoplasm that involves the zone of skin. http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/MF_0000075 mental quality http://purl.obolibrary.org/obo/MF_0000074 bodily quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A benign neoplasm that involves the renal pelvis. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease that involves the renal tubule. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/ECTO_9000266 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/ECTO_9000364 tetracycline exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to tetracycline. http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure An organ involved in reproduction. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ A female organ involved in reproduction http://purl.obolibrary.org/obo/KTAO_0000005 AKI patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of acute kidney injury (AKI). http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/ECTO_9001334 primary alcohol exposure http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure An exposure to primary alcohol. http://purl.obolibrary.org/obo/MONDO_0016356 diffuse cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/KTAO_0000006 CKD patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of chronic kidney disease (CKD). http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A disorder of the blood that is present at birth. http://purl.obolibrary.org/obo/MONDO_0020579 mucositis http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease Inflammation of the mucous membranes. http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4948 HLA-DRB1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HLA-DRB1 in human. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Initial section of the oviduct through which the ova pass from the ovary to the uterus http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CL_4030008 pronephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0033727 Diffuse lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/HP_0034230 Inferior crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). http://purl.obolibrary.org/obo/HP_0033728 Mesangial proliferative lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/HP_0034231 Sigmoid kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0002394 bile duct A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. http://purl.obolibrary.org/obo/HP_0033729 Minimal mesangial lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0034232 Unilateral lump kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/HP_0033730 Membranous lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is part of a immune system [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). http://purl.obolibrary.org/obo/HP_0033731 Focal lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The part of the digestive system that excludes the hepatobiliary system. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/HP_0034233 Disc kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which kidneys fuse along their medial borders. http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/HP_0034234 L-shaped kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis Autosomal recessive form of inherited ichthyosis. http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/HP_0033732 Advanced sclerotic lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. http://purl.obolibrary.org/obo/HP_0033759 Impaired renal tubular reabsorption of magnesium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of magnesium. http://purl.obolibrary.org/obo/HP_0033761 Xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. http://purl.obolibrary.org/obo/HP_0034235 Superior crossed-fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/HP_0033774 Impaired renal tubular reabsorption of uric acid http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of uric acid. http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology An anomalous structure of an artery located in the kidney. http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/HP_0034239 Renal vein thrombosis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. http://purl.obolibrary.org/obo/MONDO_0017884 papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument http://purl.obolibrary.org/obo/UBERON_0002049 vasculature The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Abnormal structure of a vein located inside the kidney parenchyma. http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/OGG_0000000001 genome http://purl.obolibrary.org/obo/BFO_0000040 material entity A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/HP_0034242 Abnormal fetal genitourinary system morphology http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. http://purl.obolibrary.org/obo/OGG_0000000002 gene http://purl.obolibrary.org/obo/BFO_0000040 material entity A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/CL_4030022 renal medullary fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal medulla interstitium. http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. http://purl.obolibrary.org/obo/CL_4030019 kidney connecting tubule intercalated cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/OGG_0000000010 protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/CL_4030020 kidney connecting tubule alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. http://purl.obolibrary.org/obo/HP_0033856 Cholesterol emboli within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/CL_4030021 kidney connecting tubule beta-intercalated cell http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/HP_0033857 Intraluminal thrombi within interlobular veins http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/OGG_0000000024 ncRNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. http://purl.obolibrary.org/obo/OGG_0000000027 other gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. http://purl.obolibrary.org/obo/CL_4030025 renal cortical fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal cortical interstitium. http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Bacteria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/HP_0033858 Organized thrombi within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. http://purl.obolibrary.org/obo/CL_4030031 interstitial cell http://purl.obolibrary.org/obo/CL_0000000 cell Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria The genome of an organism of Proteobacteria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/HP_4000010 Impaired renal tubular reabsorption of bicarbonate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of bicarbonate. http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid Any of a class of steroid hormones that are produced in the adrenal cortex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/OPMI_0000585 payer plan period http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A period time of the payment that is covered by a payer plan for a person. http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CHEBI_51270 tetracenes http://purl.obolibrary.org/obo/CHEBI_51269 acenes Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_1000009606 genome of Homo sapiens http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota The genome of an organism of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with the payment process defined in a payer plan http://purl.obolibrary.org/obo/OGG_1000208964 genome of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria The genome of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic molecular entity containing a single carbon atom (C1). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/OPMI_0000586 payer plan period start date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period starts. http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Bacteria http://purl.obolibrary.org/obo/CHEBI_75772 Saccharomyces cerevisiae metabolite http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma (disease) Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/MONDO_0018227 hypocomplementemic urticarial vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease A disorder of the development of bone in which ossification is affected. http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OPMI_0000587 payer plan period end date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period ends. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/CHEBI_15339 acceptor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria A gene of an organism of Proteobacteria http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/CHEBI_16134 ammonia http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/CL_4030012 kidney loop of Henle short descending thin limb epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the short loop (cortical) nephron limited to the outer medulla (mainly inner strip). It is known in some mammalian species that the short descending limb of the loop of Henle selectively expresses the serine protease Corin, the homeobox TF Uncx, and the urea channel Slc14a2. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0006510 renal tubular transport disease An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/CL_4030014 kidney loop of Henle long descending thin limb inner medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the inner medulla. It is known in some mammalian species that the long descending limb of the loop of Henle in the inner medulla selectively expresses the nuclear receptor Nr2e3, the Ig kappa chain Igkc, and the secreted protein dermokine (Dmkn). SLC14A2, which expresses a urea transporter, is also expressed in the inner medulla. http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Eukaryota http://purl.obolibrary.org/obo/CHEBI_16842 formaldehyde http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/CL_4030013 kidney loop of Henle long descending thin limb outer medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the outer medulla (inner stripe). It is known in some mammalian species that the long descending limb of the loop of Henle in the outer medulla selectively expresses the secreted activin-antagonist protein follistatin (Fst), the GPI-linked adhesion protein Cdh13, and the protein kinase Stk32a. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota A gene of an organism of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_17891 donor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0034836 Cystic nephroma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A benign cystic neoplasm of the kidney. http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria A gene of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a protein-coding gene disposition http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/CHEBI_18154 polysaccharide http://purl.obolibrary.org/obo/CHEBI_167559 glycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. http://purl.obolibrary.org/obo/HP_6000073 Renal lymphangiectasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://purl.obolibrary.org/obo/CHEBI_18248 iron atom http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/HP_6000076 Renal vasculitis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens A gene of Homo sapiens that has a ncRNA gene disposition http://purl.obolibrary.org/obo/CHEBI_23888 drug http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://purl.obolibrary.org/obo/OBI_0003610 reactant role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a biological or chemical entity that participates or has molecular components that participate in a chemical reaction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality Deviation from the norm of height with respect to that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_24433 group http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/HP_0000003 Multicystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. http://purl.obolibrary.org/obo/CHEBI_24621 hormone http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance http://purl.obolibrary.org/obo/HP_0000001 All The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CHEBI_26188 polyketide http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young (disease) http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. http://purl.obolibrary.org/obo/RO_0002310 exposure event or process http://purl.obolibrary.org/obo/BFO_0000015 process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_26348 prosthetic group http://purl.obolibrary.org/obo/CHEBI_23357 cofactor A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder Dysfunction of the urinary bladder. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/HP_0000010 Recurrent urinary tract infections http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology Repeated infections of the urinary tract. http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract An abnormality of the urinary bladder. http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. http://purl.obolibrary.org/obo/HP_0000027 Azoospermia http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis Absence of any measurable level of sperm in his semen. http://purl.obolibrary.org/obo/CHEBI_28616 carbamic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia An abnormality of male external genitalia. http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/HP_0000037 Male pseudohermaphroditism http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/CHEBI_32600 tetracene http://purl.obolibrary.org/obo/CHEBI_35297 acene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/MONDO_0011885 tubulointerstitial nephritis and uveitis syndrome http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_33252 atomic nucleus http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. http://purl.obolibrary.org/obo/CHEBI_33284 nutrient http://purl.obolibrary.org/obo/CHEBI_78295 food component A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/CHEBI_33696 nucleic acid http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_35107 azane http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug Any antimicrobial drug which is used to treat or prevent protozoal infections. http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. http://purl.obolibrary.org/obo/CHEBI_36080 protein http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/CHEBI_37527 acid http://purl.obolibrary.org/obo/CHEBI_51086 chemical role An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction The presence of a stenotic, i.e., constricted ureter. http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxin http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. http://purl.obolibrary.org/obo/CHEBI_51086 chemical role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/HP_0000074 Ureteropelvic junction obstruction http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019065 amyloidosis (disease) http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. http://purl.obolibrary.org/obo/CHEBI_59740 nucleophilic reagent http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_60242 monovalent inorganic cation http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/MONDO_0019105 renal nutcracker syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/HP_0000075 Renal duplication http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/MONDO_0019124 microscopic polyangiitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/MONDO_0019125 relapsing polychondritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the kidney. http://purl.obolibrary.org/obo/MONDO_0019172 aniridia http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the genital system. http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/CHEBI_77941 EC 3.5.1.4 (amidase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the urinary system. http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-) http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride A divalent inorganic anion resulting from the removal of two protons from ammonia. http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/CHEBI_33658 arene http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/CHEBI_50313 onium cation http://purl.obolibrary.org/obo/CHEBI_50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. http://purl.obolibrary.org/obo/HP_0000081 Duplicated collecting system http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis Changes in the organism associated with senescence, occurring at an accelerated rate. http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/CL_0000001 primary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. http://purl.obolibrary.org/obo/HP_0000085 Horseshoe kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A developmental defect in which a kidney is located in an abnormal anatomic position. http://purl.obolibrary.org/obo/CL_0000007 early embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Hypoplasia of the kidney. http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology An abnormality of the renal tubules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. http://purl.obolibrary.org/obo/CL_0000010 cultured cell http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro A cell in vitro that is or has been maintained or propagated as part of a cell culture. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the glomerulus. http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://purl.obolibrary.org/obo/CL_0000034 stem cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Accumulation of scar tissue within the glomerulus. http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/HP_0000097 Focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height A height above that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/CL_0000039 germ line cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/MONDO_0019563 CREST syndrome http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_0000040 monoblast http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/HP_0000103 Polyuria http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output An increased rate of urine production. http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Agenesis, that is, failure of the kidney to develop during embryogenesis and development. http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://purl.obolibrary.org/obo/HP_0031684 Renal artery atherosclerosis http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology An atherosclerotic lesion located in the renal artery. http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/HP_0000105 Enlarged kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal increase in the size of the kidney. http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection http://purl.obolibrary.org/obo/HP_0032169 Severe infection An unusually severe viral infection. http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell A stem cell from which all cells of the body can form. http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A fluid filled sac in the kidney. http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell with a limited number of potential fates. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OBI_0002460 defined population inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/CL_0000056 myoblast http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://purl.obolibrary.org/obo/CL_0000057 fibroblast http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://purl.obolibrary.org/obo/HP_0000108 Renal corticomedullary cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of multiple cysts at the border between the renal cortex and medulla. http://purl.obolibrary.org/obo/MONDO_0020639 monosomy http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/MONDO_0019730 light chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/MONDO_0019734 juvenile polymyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/CL_0000064 ciliated cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that has a filiform extrusion of the cell surface. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease or disorder that involves the retroperitoneal space. http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Increased number and size of the juxtaglomerular cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://purl.obolibrary.org/obo/CL_0000067 ciliated epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/HP_0000112 Nephropathy http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/CL_0000068 duct epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that is part of a duct. http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of multiple cysts in both kidneys. http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/MONDO_0019759 epispadias (disease) http://purl.obolibrary.org/obo/MONDO_0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/OPMI_0000071 January http://purl.obolibrary.org/obo/OPMI_0000070 month of year The first month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/BFO_0000019 quality A phenotypic abnormality. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality The presence of any abnormality of the genitourinary system. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/OPMI_0000072 February http://purl.obolibrary.org/obo/OPMI_0000070 month of year The second month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. http://purl.obolibrary.org/obo/OPMI_0000073 March http://purl.obolibrary.org/obo/OPMI_0000070 month of year The third month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. http://purl.obolibrary.org/obo/CL_0000081 blood cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell found predominately in the blood. http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/MONDO_0019991 immunotactoid glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019605 immunotactoid or fibrillary glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000122 Unilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A unilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/OPMI_0000074 April http://purl.obolibrary.org/obo/OPMI_0000070 month of year The4th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). http://purl.obolibrary.org/obo/CL_0000083 epithelial cell of pancreas http://purl.obolibrary.org/obo/CL_0002371 somatic cell An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/OPMI_0000075 May http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 5th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OPMI_0000076 June http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 6th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/HP_0000123 Nephritis http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/CL_0000084 T cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0002145 sex differentiation disease Differences of sex development in individuals with 46,XY karyotype. http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. http://purl.obolibrary.org/obo/OPMI_0000077 July http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 7th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000092 osteoclast http://purl.obolibrary.org/obo/CL_0001035 bone cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. http://purl.obolibrary.org/obo/CL_0000094 granulocyte http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A leukocyte with abundant granules in the cytoplasm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic peripheral neuropathy. http://purl.obolibrary.org/obo/HP_0000125 Pelvic kidney http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil http://purl.obolibrary.org/obo/CL_0000775 neutrophil A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. http://purl.obolibrary.org/obo/OPMI_0000078 August http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 8th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy Macular dystrophy that is related to a change in a gene. http://purl.obolibrary.org/obo/HP_0000126 Hydronephrosis http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis Severe distention of the kidney with dilation of the renal pelvis and calices. http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders A decreased functionality of the gonad. http://purl.obolibrary.org/obo/CL_0000097 mast cell http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/OPMI_0000079 September http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 9th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of head and neck. http://purl.obolibrary.org/obo/CL_0000113 mononuclear phagocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A vertebrate phagocyte with a single nucleus. http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/OPMI_0000080 October http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 10th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000081 November http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 11th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OPMI_0000082 December http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 12th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face An abnormality of the mouth. http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000083 day of week http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A day of a calendar week that includes covers 24 hours each day. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000115 endothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000084 Monday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The first day of the week. http://purl.obolibrary.org/obo/OPMI_0000085 Tuesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The second day of the week. http://purl.obolibrary.org/obo/OPMI_0000086 Wednesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The third day of the week. http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/OPMI_0000087 Thursday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fourth day of the week. http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/HP_0000202 Oral cleft http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0009571 Meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. http://purl.obolibrary.org/obo/OPMI_0000088 Friday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fifth day of the week. http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/OPMI_0000089 Saturday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 6th day of the week. http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck An abnormality of the head. http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/CL_0000133 neurectodermal cell http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell Ectoderm destined to be nervous tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. http://purl.obolibrary.org/obo/OPMI_0000090 Sunday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 7th day of the week. http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology Any abnormality of the size of the skull. http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/CL_0000134 mesenchymal stem cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. http://purl.obolibrary.org/obo/CL_0000135 fibrocyte http://purl.obolibrary.org/obo/CL_0000499 stromal cell An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OPMI_0000092 birthday http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time the anniversary of the birth of a person http://purl.obolibrary.org/obo/HP_0000286 Epicanthus http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/OPMI_0000435 child human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Any abnormal sttructure of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/CL_0000150 glandular epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0031703 Abnormal ear morphology An abnormality of the inner ear. http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that specializes in controlled release of one or more substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality http://purl.obolibrary.org/obo/HP_0031704 Abnormal ear physiology An abnormality of the sensory perception of sound. http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis Any deviation from the normal concentration of a metabolite in urine. http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000163 endocrine cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology A structural abnormality of the retina. http://purl.obolibrary.org/obo/CL_0000164 enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/HP_0000486 Strabismus http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology An abnormality of the eyelids. http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033861 Multilamellation of cortical peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. http://purl.obolibrary.org/obo/CL_0000183 contractile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology An abnormality in voluntary or involuntary eye movements or their control. http://purl.obolibrary.org/obo/HP_0033862 Cortical peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. http://purl.obolibrary.org/obo/CL_0000186 myofibroblast cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology An abnormality of the eyelashes. http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/CL_0000187 muscle cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000501 Glaucoma http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/CL_0000192 smooth muscle cell http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Abnormality of eyesight (visual perception). http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. http://purl.obolibrary.org/obo/HP_0033865 Medullary peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://purl.obolibrary.org/obo/CL_0000211 electrically active cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose function is determined by the generation or the reception of an electric signal. http://purl.obolibrary.org/obo/CL_0000213 lining cell http://purl.obolibrary.org/obo/CL_0000215 barrier cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. http://purl.obolibrary.org/obo/HP_0033866 Medullary peritubular capillary erythrocyte congestion http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/CL_0000214 synovial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A cell located in the synovial joint. http://purl.obolibrary.org/obo/CL_0000215 barrier cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell whose primary function is to prevent the transport of stuff across compartments. http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that moves by its own activities. http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0033867 Multilamellation of medullary peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0000525 Abnormality iris morphology http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/MONDO_0010974 nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/HP_0033869 Medullary peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/HP_0033870 Medullary peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/CL_0000223 endodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. http://purl.obolibrary.org/obo/HP_0033871 Medullary peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/CL_0000225 anucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that lacks a nucleus. http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000553 Abnormal uvea morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the uvea, the vascular layer of the eyeball. http://purl.obolibrary.org/obo/CL_0000226 single nucleate cell http://purl.obolibrary.org/obo/CL_0002242 nucleate cell A cell with a single nucleus. http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/HP_0033872 Cortical peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the ear. http://purl.obolibrary.org/obo/HP_0033873 Cortical peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A metabolic disease that involves the intestine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/CL_0000232 erythrocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/HP_0033874 Cortical peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/HP_0000726 Dementia http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/CL_0000233 platelet http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/CL_0000234 phagocyte http://purl.obolibrary.org/obo/CL_0000473 defensive cell Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/CL_0000235 macrophage http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/HP_0033876 Arcuate vein lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/HP_0033877 Arcuate vein intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/CL_0000236 B cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/MONDO_0015610 acquired aplastic anemia http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/HP_0033878 Arcuate vein lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0000793 Membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/HP_0000794 IgA deposition in the glomerulus http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of immunoglobulin A deposits in the glomerulus. http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hypoparathyroidism. http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Genetic hyperparathyroidism. http://purl.obolibrary.org/obo/CL_0000313 serous secreting cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/HP_0000799 Renal steatosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormal fat accumulation in the kidneys. http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Hydrocephalus that is present at birth. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/HP_0033880 Arcuate vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology Cysts of the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility http://purl.obolibrary.org/obo/MONDO_0005047 infertility disorder Genetic infertility. http://purl.obolibrary.org/obo/CL_0000325 stuff accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/HP_0000804 Xanthine nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0033881 Arcuate vein intimal/medial myxomatous degeneration http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000335 mesenchyme condensation cell http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000352 epiblast cell http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell A smooth muscle cell associated with the vasculature. http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000365 animal zygote http://purl.obolibrary.org/obo/CL_0010017 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/MONDO_0017390 methylmalonic acidemia without homocystinuria http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/CL_0000393 electrically responsive cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the endocrine system. http://purl.obolibrary.org/obo/CL_0000404 electrically signaling cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/HP_0033882 Arcuate vein intima/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/CL_0000424 excretory cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000451 dendritic cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/HP_0000822 Hypertension http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. http://purl.obolibrary.org/obo/CL_0000458 serotonin secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. http://purl.obolibrary.org/obo/CL_0000473 defensive cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to protect the organism. http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/HP_0033885 Cortical radial artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CL_0000499 stromal cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/CL_0000514 smooth muscle myoblast http://purl.obolibrary.org/obo/CL_0000056 myoblast A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the renin-angiotensin system. http://purl.obolibrary.org/obo/HP_0033887 Cortical radial artery intimal/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/HP_0000855 Insulin resistance http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/CL_0000518 phagocyte (sensu Vertebrata) http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell A phagocyte in vertebrates that is able to phagocytosis. http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/CL_0002319 neural cell The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/CL_0000547 proerythroblast http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin. http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/CL_0000549 basophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/HP_0000953 Hyperpigmentation of the skin http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/HP_0033891 Renal arteriolar lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/HP_0000992 Cutaneous photosensitivity http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/CL_0000552 orthochromatic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/HP_0001072 Thickened skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology Laminar thickening of skin. http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis (disease) An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/HP_0033893 Renal arteriolar lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural abnormality of the fundus of the eye. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/HP_0033894 Renal arteriolar intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. http://purl.obolibrary.org/obo/HP_0001103 Abnormal macular morphology http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/CL_0000558 reticulocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy http://purl.obolibrary.org/obo/MONDO_0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. http://purl.obolibrary.org/obo/CL_0000559 promonocyte http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly http://purl.obolibrary.org/obo/HP_0011927 Short digit Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/HP_0033897 Arcuate artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/CL_0000566 angioblastic mesenchymal cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A mesenchymal stem cell capable of developing into blood vessel endothelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease A interstitial lung disease that occurs during childhood. http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/HP_0001251 Ataxia http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/CL_0000576 monocyte http://purl.obolibrary.org/obo/CL_0011026 progenitor cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/HP_0033898 Arcuate artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. http://purl.obolibrary.org/obo/HP_0001257 Spasticity http://purl.obolibrary.org/obo/HP_0001276 Hypertonia A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro http://purl.obolibrary.org/obo/CL_0000000 cell A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/CL_0000586 germ cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell The reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/HP_0033899 Arcuate artery lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/CL_0000623 natural killer cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment Loss of previously present mental abilities, generally in adults. http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/HP_0033900 Renal arteriole intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis A inherited ichthyosis that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/CL_0000630 supporting cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/HP_0001305 Dandy-Walker malformation http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/HP_0033902 Arcuate artery endotheliosis http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/CL_0000648 kidney granular cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon Any structural abnormality of the cerebellum. http://purl.obolibrary.org/obo/CL_0000650 mesangial cell http://purl.obolibrary.org/obo/CL_0000669 pericyte cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/CL_0000653 podocyte http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. http://purl.obolibrary.org/obo/HP_0001320 Cerebellar vermis hypoplasia http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis Underdevelopment of the vermis of cerebellum. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease A disease that has its basis in the disruption of protein O-linked glycosylation. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/CL_0000669 pericyte cell http://purl.obolibrary.org/obo/CL_0008034 mural cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/HP_0033904 Renal arteriole intima/media hyalinosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the liver. http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/HP_0033905 Arcuate artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell http://purl.obolibrary.org/obo/CL_0000034 stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/HP_0001396 Cholestasis http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system Impairment of bile flow due to obstruction in bile ducts. http://purl.obolibrary.org/obo/CL_0000731 urothelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/HP_0001417 X-linked inheritance http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/HP_0033907 Renal arteriole intima/media arteriolosclerosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/CL_0000763 myeloid cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/CL_0000765 erythroblast http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0007179 autoimmune disease A hypersensitivity reaction type II disease that involves the skin of body. http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology An abnormality of the hair. http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A cell of the monocyte, granulocyte, or mast cell lineage. http://purl.obolibrary.org/obo/CL_0000767 basophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology Abnormality of the nail. http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/CL_0000775 neutrophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0017887 renal cell carcinoma associated with neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/MONDO_0017890 tubulocystic renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005549 renal cell adenocarcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000782 myeloid dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart. http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/CL_0000785 mature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/CL_0000786 plasma cell http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0001635 Congestive heart failure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses an alpha-beta T cell receptor complex. http://purl.obolibrary.org/obo/HP_0001669 Transposition of the great arteries http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002420 immature T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. http://purl.obolibrary.org/obo/HP_0001679 Abnormal aortic morphology http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels An abnormality of the aorta. http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome for which no cause has been identified. http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002419 mature T cell A alpha-beta T cell that has a mature phenotype. http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018360 neonatal lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. http://purl.obolibrary.org/obo/HP_0001710 Conotruncal defect http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/CL_0000805 immature single positive thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0005380 osteonecrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the pancreas. http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/CL_0000806 DN2 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteonecrosis that is caused by a modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system An abnormality of the spleen. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/CL_0000807 DN3 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/MONDO_0018448 clear cell papillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. http://purl.obolibrary.org/obo/MONDO_0018449 acquired cystic disease-associated renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0018463 mild phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://purl.obolibrary.org/obo/CL_0000808 DN4 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/CL_0000809 double-positive, alpha-beta thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0018464 severe phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/CL_0000814 mature NK T cell http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. http://purl.obolibrary.org/obo/CL_0000816 immature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/HP_0001877 Abnormal erythrocyte morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CL_0000817 precursor B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/HP_0001892 Abnormal bleeding http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). http://purl.obolibrary.org/obo/HP_0001919 Acute kidney injury http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/HP_0001920 Renal artery stenosis http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000825 pro-NK cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005005 clear cell renal carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000826 pro-B cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/HP_0001941 Acidosis http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis Abnormal acid accumulation or depletion of base. http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/CL_0000827 pro-T cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0018551 patent urachus (disease) http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis http://purl.obolibrary.org/obo/HP_0001941 Acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CL_0000831 mast cell progenitor http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0001945 Fever http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Elevated body temperature due to failed thermoregulation. http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/MONDO_0018552 urachal sinus http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/HP_0001959 Polydipsia http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior Excessive thirst manifested by excessive fluid intake. http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/MONDO_0018553 urachal diverticulum http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the myeloid lineage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology An abnormality that involves the tubules and interstitial tissue of the kidney. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/CL_0000860 classical monocyte http://purl.obolibrary.org/obo/CL_0000576 monocyte A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/MONDO_0018738 benign metanephric tumour http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm A benign neoplasm that involves the metanephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/HP_0001994 Renal Fanconi syndrome http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/MONDO_0019056 neuromuscular disease http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology A structural abnormality of the central nervous system. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/CL_0000862 suppressor macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage A macrophage that suppresses immune responses. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the viscera of the abdomen. http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/CL_0000863 inflammatory macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. http://purl.obolibrary.org/obo/HP_0002013 Vomiting http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type A hemorrhagic disorder due to a platelet anomaly which occurs from birth. http://purl.obolibrary.org/obo/CL_0000864 tissue-resident macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/HP_0002014 Diarrhea http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Abnormally increased frequency of loose or watery bowel movements. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/CL_0000890 alternatively activated macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/CL_0000891 foam cell http://purl.obolibrary.org/obo/CL_0000000 cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. http://purl.obolibrary.org/obo/MONDO_0019167 immunoglobulin a vasculitis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0002020 Gastroesophageal reflux http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/CL_0000893 thymocyte http://purl.obolibrary.org/obo/CL_0002420 immature T cell An immature T cell located in the thymus. http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain http://purl.obolibrary.org/obo/HP_0012531 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T cell http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/HP_0002039 Anorexia http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology A lack or loss of appetite for food (as a medical condition). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. http://purl.obolibrary.org/obo/HP_0002048 Renal cortical atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy Atrophy of the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/HP_0002049 Proximal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the nail. http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/MONDO_0019340 scleroderma (disease) http://purl.obolibrary.org/obo/MONDO_0005554 rheumatologic disorder Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/HP_0002060 Abnormal cerebral morphology http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/CL_0000954 small pre-B-II cell http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0019355 adult-onset Still disease http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Abnormality of the cerebral ventricles. http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An increase in size of the ventricular system of the brain. http://purl.obolibrary.org/obo/HP_0002157 Azotemia http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/HP_0002198 Dilated fourth ventricle http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. http://purl.obolibrary.org/obo/HP_0002240 Hepatomegaly http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly Abnormally increased size of the liver. http://purl.obolibrary.org/obo/HP_0002242 Abnormal intestine morphology http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. http://purl.obolibrary.org/obo/HP_0002315 Headache http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation An anomaly of the vermis of cerebellum. http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell http://purl.obolibrary.org/obo/CL_0000817 precursor B cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0019396 collagen type III glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/CL_0000980 plasmablast http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system An abnormality of the vasculature. http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell http://purl.obolibrary.org/obo/CL_0000451 dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/MONDO_0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0001007 interstitial dendritic cell http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. http://purl.obolibrary.org/obo/MONDO_0019536 typical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0002664 Neoplasm http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/MONDO_0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/HP_0002667 Nephroblastoma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/CL_0001035 bone cell http://purl.obolibrary.org/obo/CL_0000000 cell A connective tissue cell found in bone. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the immune system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/MONDO_0019641 pauci-immune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/HP_0002719 Recurrent infections http://purl.obolibrary.org/obo/HP_0032101 Unusual infection Increased susceptibility to infections. http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system A lymph node abnormality. http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia (disease) Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone Any abnormality of bones of the arms or legs. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/MONDO_0019664 short rib-polydactyly syndrome, Verma-Naumoff type http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/HP_0002905 Hyperphosphatemia http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration An abnormally increased phosphate concentration in the blood. http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/CL_0002028 basophil mast progenitor cell http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/HP_0002907 Microscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/HP_0002917 Hypomagnesemia http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration An abnormally decreased magnesium concentration in the blood. http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/CL_0002039 immature NK T cell stage I http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder Either an isolated neoplasm or a syndrome with neoplasm as a major feature. http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality An abnormality of the cerebrospinal fluid (CSF). http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CL_0002040 immature NK T cell stage II http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of glycosylation. http://purl.obolibrary.org/obo/ENVO_01001434 anthropogenic ecosystem conversion process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality Absence or underdevelopment of tissue in the central nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/GO_0140352 export from cell http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/CL_0002041 immature NK T cell stage III http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Abnormality originating in one or more muscles, i.e., of the set of muscles of body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/MF_0000073 intentionality http://purl.obolibrary.org/obo/MF_0000075 mental quality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/CL_0002042 immature NK T cell stage IV http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/MF_0000074 bodily quality http://purl.obolibrary.org/obo/BFO_0000019 quality A bodily quality is a quality that inheres in some extended organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration An abnormally increased calcium concentration in the blood. http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/MF_0000075 mental quality http://purl.obolibrary.org/obo/MF_0000074 bodily quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/HP_0003073 Hypoalbuminemia http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level Reduction in the concentration of albumin in the blood. http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/ECTO_9000266 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/ECTO_9000364 tetracycline exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to tetracycline. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/ECTO_9001334 primary alcohol exposure http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure An exposure to primary alcohol. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration An increased concentration of glucose in the blood. http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. http://purl.obolibrary.org/obo/HP_0003076 Glycosuria http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration An increased concentration of glucose in the urine. http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from endoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. http://purl.obolibrary.org/obo/CL_0002077 ecto-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from ectoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell Epithelial cell derived from mesoderm or mesenchyme. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/HP_0033727 Diffuse lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell http://purl.obolibrary.org/obo/CL_0001035 bone cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. http://purl.obolibrary.org/obo/HP_0033728 Mesangial proliferative lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000115 endothelial cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/HP_0003127 Hypocalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration An abnormally decreased calcium concentration in the urine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell An endothelial cell found in capillaries. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/HP_0033729 Minimal mesangial lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. http://purl.obolibrary.org/obo/CL_0002173 extraglomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally increased serum levels of alkaline phosphatase activity. http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. http://purl.obolibrary.org/obo/HP_0033730 Membranous lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/HP_0003198 Myopathy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology Abnormal increased size of the viscera of the abdomen. http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/HP_0033731 Focal lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/HP_0003282 Low alkaline phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally reduced serum levels of alkaline phosphatase. http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/HP_0033732 Advanced sclerotic lupus nephritis http://purl.obolibrary.org/obo/HP_0033726 Lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a monocyte (monopoiesis). http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology Any anomaly in the composite material or the layered arrangement of the bony skeleton. http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/HP_0033759 Impaired renal tubular reabsorption of magnesium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of magnesium. http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/HP_0003351 Decreased circulating renin level http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin An decreased level of renin in the blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0002242 nucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell containing at least one nucleus. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/HP_0033761 Xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes histamine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/HP_0003513 Reduced ratio of renal calcium clearance to creatinine clearance http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://purl.obolibrary.org/obo/HP_0033774 Impaired renal tubular reabsorption of uric acid http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of uric acid. http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology An anomalous structure of an artery located in the kidney. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/HP_0003581 Adult onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the proximal tubule of the kidney. http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0003593 Infantile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between 28 days to one year of life. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/CL_0002307 brush border cell of the proximal tubule http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0003621 Juvenile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between the age of 5 and 15 years. http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Abnormal structure of a vein located inside the kidney parenchyma. http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of the nervous system. http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/HP_0003774 Stage 5 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell of the embryo. http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver An abnormality of the biliary system. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology http://purl.obolibrary.org/obo/HP_0033852 Abnormal intrarenal vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0004324 Increased body weight http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight Abnormally increased body weight. http://purl.obolibrary.org/obo/CL_0002371 somatic cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural anomaly of the vitreous body. http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration Any deviation from the normal concentration of calcium in the blood circulation. http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity An abnormality of alkaline phosphatase level. http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal collecting system. http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration An abnormality of magnesium ion homeostasis. http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology Abnormal increased size of the posterior cranial fossa. http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology Obstruction of the flow of urine through the ureter. http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. http://purl.obolibrary.org/obo/HP_0007700 Ocular anterior segment dysgenesis http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the iris. http://purl.obolibrary.org/obo/HP_0008055 Aplasia/Hypoplasia affecting the uvea http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/CL_0002419 mature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/HP_0033856 Cholesterol emboli within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/HP_0033857 Intraluminal thrombi within interlobular veins http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/CL_0002420 immature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that has not completed T cell selection. http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033858 Organized thrombi within interlobular vein lumen http://purl.obolibrary.org/obo/HP_0033855 Abnormal interlobular vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia Incomplete maturation or aberrant formation of the male gametes. http://purl.obolibrary.org/obo/CL_0002425 early T lineage precursor http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Absence or underdevelopment of the kidney. http://purl.obolibrary.org/obo/HP_4000010 Impaired renal tubular reabsorption of bicarbonate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Decreased renal tubular reabsorption of bicarbonate. http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/OPMI_0000585 payer plan period http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A period time of the payment that is covered by a payer plan for a person. http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the renal artery. http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CL_0002494 cardiocyte http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell located in the heart, including both muscle and non muscle cells. http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with the payment process defined in a payer plan http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell An epithelial cell of the kidney. http://purl.obolibrary.org/obo/OPMI_0000586 payer plan period start date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period starts. http://purl.obolibrary.org/obo/HP_0010442 Polydactyly http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology A congenital anomaly characterized by the presence of supernumerary fingers or toes. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CL_0002519 interrenal epithelial cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology Abnormality of the male genital system. http://purl.obolibrary.org/obo/OPMI_0000587 payer plan period end date http://purl.obolibrary.org/obo/OPMI_0000584 payer plan temporal region A date when a payer plan period ends. http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CL_4030012 kidney loop of Henle short descending thin limb epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the short loop (cortical) nephron limited to the outer medulla (mainly inner strip). It is known in some mammalian species that the short descending limb of the loop of Henle selectively expresses the serine protease Corin, the homeobox TF Uncx, and the urea channel Slc14a2. http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/CL_0002522 renal filtration cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/CL_4030014 kidney loop of Henle long descending thin limb inner medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the inner medulla. It is known in some mammalian species that the long descending limb of the loop of Henle in the inner medulla selectively expresses the nuclear receptor Nr2e3, the Ig kappa chain Igkc, and the secreted protein dermokine (Dmkn). SLC14A2, which expresses a urea transporter, is also expressed in the inner medulla. http://purl.obolibrary.org/obo/CL_0002523 mesonephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. http://purl.obolibrary.org/obo/HP_0010550 Paraplegia http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis Severe or complete weakness of both lower extremities with sparing of the upper extremities. http://purl.obolibrary.org/obo/CL_4030013 kidney loop of Henle long descending thin limb outer medulla epithelial cell http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the outer medulla (inner stripe). It is known in some mammalian species that the long descending limb of the loop of Henle in the outer medulla selectively expresses the secreted activin-antagonist protein follistatin (Fst), the GPI-linked adhesion protein Cdh13, and the protein kinase Stk32a. http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://purl.obolibrary.org/obo/CL_0002525 metanephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/HP_0034836 Cystic nephroma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A benign cystic neoplasm of the kidney. http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/CL_0002543 vein endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the vein. http://purl.obolibrary.org/obo/HP_0010566 Hamartoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/HP_0030724 Central nervous system cyst A cystic lesion originating within the brain. http://purl.obolibrary.org/obo/HP_6000073 Renal lymphangiectasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0002546 embryonic blood vessel endothelial progenitor cell http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/HP_6000076 Renal vasculitis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of tyrosine in the blood circulation. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/CL_0002573 Schwann cell http://purl.obolibrary.org/obo/CL_0000125 glial cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An abnormality of a nucleobase metabolic process. http://purl.obolibrary.org/obo/OBI_0003610 reactant role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a biological or chemical entity that participates or has molecular components that participate in a chemical reaction. http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality Deviation from the norm of height with respect to that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/HP_0000003 Multicystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the upper urinary tract. http://purl.obolibrary.org/obo/CL_0002584 renal cortical epithelial cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell An epithelial cell of the kidney cortex. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance http://purl.obolibrary.org/obo/HP_0000001 All The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a cortex of kidney. http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the lower urinary tract. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/CL_0005009 renal principal cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology The presence of dilatation of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron A cuboidal epithelial cell of the kidney that regulates acid/base balance. http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An abnormality of the fourth ventricle. http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder Dysfunction of the urinary bladder. http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system A functional abnormality of the immune system. http://purl.obolibrary.org/obo/HP_0000010 Recurrent urinary tract infections http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology Repeated infections of the urinary tract. http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. http://purl.obolibrary.org/obo/CL_0007001 skeletogenic cell http://purl.obolibrary.org/obo/CL_0000000 cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. http://purl.obolibrary.org/obo/CL_0007004 premigratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract An abnormality of the urinary bladder. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern http://purl.obolibrary.org/obo/HP_0031797 Clinical course The speed at which disease manifestations appear and develop. http://purl.obolibrary.org/obo/CL_0008000 non-striated muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/HP_0000027 Azoospermia http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis Absence of any measurable level of sperm in his semen. http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis An abnormality of the concentration of glucose in the blood. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia An abnormality of male external genitalia. http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell A muscle cell that is part of some visceral muscle. http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An abnormality of the concentration of glucose in the urine. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/HP_0000037 Male pseudohermaphroditism http://purl.obolibrary.org/obo/HP_0000032 Abnormality of male external genitalia Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/CL_1000412 endothelial cell of arteriole http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the arteriole. http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the regulation of body fluids. http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/HP_0011034 Amyloidosis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/CL_1000413 endothelial cell of artery http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell A blood vessel endothelial cell that is part of an arterial endothelium. http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of the nephron. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction An abnormality of renal absorption. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell An epithelial cell that is part of the glomerular capsule. http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction The presence of a stenotic, i.e., constricted ureter. http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/HP_0000074 Ureteropelvic junction obstruction http://purl.obolibrary.org/obo/HP_0000071 Ureteral stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration An abnormality of calcium concentration in the urine. http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/CL_1000453 epithelial cell of intermediate tubule http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell An epithelial cell that is part of the intermediate tubule. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/HP_0000075 Renal duplication http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell An epithelial cell that is part of the collecting duct of renal tubule. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract An abnormality of the kidney. http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology A morphological abnormality of a digit, i.e., of a finger or toe. http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the genital system. http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell An epithelial cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/CL_1000497 kidney cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of a kidney. http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the skin that is not localized to any one particular region. http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system An abnormality of the urinary system. http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/HP_0011389 Functional abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear An abnormality of the function of the inner ear. http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of kidney interstitium. http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system An abnormal functionality of the genital system. http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination An abnormality of myelination of nerves in the central nervous system. http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal medulla. http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/HP_0000081 Duplicated collecting system http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. http://purl.obolibrary.org/obo/HP_0011425 Fetal ultrasound soft marker http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal pelvis. http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/HP_0000085 Horseshoe kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An anomaly of the control or production of movement in the central nervous system. http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A developmental defect in which a kidney is located in an abnormal anatomic position. http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cognitive, psychiatric or memory anomaly. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/HP_0011563 Abnormal ventriculoarterial connection http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/CL_1000546 kidney medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell An epithelial cell that is part of a renal medulla collecting duct. http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Hypoplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels Defect or defects of the morphogenesis of the aorta and pulmonary arteries. http://purl.obolibrary.org/obo/CL_1000547 kidney inner medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell An epithelial cell that is part of some inner medullary collecting duct. http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology An abnormality of the renal tubules. http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/CL_1000548 kidney outer medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell An epithelial cell that is part of an outer medullary collecting duct. http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands A functional abnormality of the adrenal glands. http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/CL_1000549 kidney cortex collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/CL_1000597 papillary tips cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell A cell that is part of a tip of a renal papilla. http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland A functional abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology A structural anomaly of the glomerulus. http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to type of histological abnormality. http://purl.obolibrary.org/obo/CL_1000698 kidney resident macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A tissue-resident macrophage that is part of some kidney. http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Accumulation of scar tissue within the glomerulus. http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to the anatomical site of origin of the neoplasm. http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/CL_1000716 kidney outer medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/HP_0000097 Focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/CL_1000717 kidney outer medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height A height above that which is expected according to age and gender norms. http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A functional abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/CL_1000742 glomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A mesangial cell located among the glomerular capillaries in a renal corpuscle. http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the renal glomeruli. http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell An endothelial cell that is part of some peritubular capillary. http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A structural abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system An abnormality of the form, structure, or size of the skeletal system. http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/CL_1001107 kidney loop of Henle thin ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. http://purl.obolibrary.org/obo/HP_0000103 Polyuria http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output An increased rate of urine production. http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/HP_0011844 Abnormal appendicular skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia Agenesis, that is, failure of the kidney to develop during embryogenesis and development. http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/CL_1001108 kidney loop of Henle medullary thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/HP_0000105 Enlarged kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal increase in the size of the kidney. http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/HP_0011927 Short digit http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. http://purl.obolibrary.org/obo/CL_1001109 kidney loop of Henle cortical thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A fluid filled sac in the kidney. http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system An infection of the upper or lower respiratory tract. http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/HP_0000108 Renal corticomedullary cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of multiple cysts at the border between the renal cortex and medulla. http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas An anomaly of the function of the pancreas. http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta ascending limb. http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level Deviation from normal concentration of albumin in the blood. http://purl.obolibrary.org/obo/HP_0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Increased number and size of the juxtaglomerular cells. http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a collecting duct of renal tubule. http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney Any structural anomaly of the kidney. http://purl.obolibrary.org/obo/HP_0000112 Nephropathy http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A nonspecific term referring to disease or damage of the kidneys. http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta descending limb. http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormal functionality of the kidney. http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of multiple cysts in both kidneys. http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A pericyte cell located in the kidney interstitium. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A structural anomaly of the globe of the eye, or bulbus oculi. http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/BFO_0000019 quality A phenotypic abnormality. http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A functional anomaly of the eye. http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/HP_0000119 Abnormality of the genitourinary system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality The presence of any abnormality of the genitourinary system. http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://purl.obolibrary.org/obo/HP_0000122 Unilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A unilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/HP_0000093 Proteinuria http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level Increased levels of protein in the urine. http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/HP_0000123 Nephritis http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response The presence of inflammation affecting the kidney. http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/HP_0000252 Microcephaly http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A structural anomaly of the nephron. http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Atrophy of the kidney. http://purl.obolibrary.org/obo/HP_0000125 Pelvic kidney http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head An abnormality of the face. http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/HP_0000126 Hydronephrosis http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis Severe distention of the kidney with dilation of the renal pelvis and calices. http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality A decreased magnitude of the sensory perception of sound. http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion An abnormal amount of urine production. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/HP_0000135 Hypogonadism http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders A decreased functionality of the gonad. http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of head and neck. http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/HP_0000508 Ptosis http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face An abnormality of the mouth. http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Functional anomaly of the kidney persisting for at least three months. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://purl.obolibrary.org/obo/HP_0000526 Aniridia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/HP_0000202 Oral cleft http://purl.obolibrary.org/obo/HP_0000163 Abnormal oral cavity morphology The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/HP_0000152 Abnormality of head or neck An abnormality of the head. http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0000554 Uveitis http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye Inflammation of one or all portions of the uveal tract. http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology Any abnormality of the size of the skull. http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/HP_0000286 Epicanthus http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/HP_0100022 Abnormality of movement http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0031703 Abnormal ear morphology An abnormality of the inner ear. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the nervous system. http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/HP_0100242 Sarcoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/HP_0000790 Hematuria http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality http://purl.obolibrary.org/obo/HP_0031704 Abnormal ear physiology An abnormality of the sensory perception of sound. http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/HP_0100324 Scleroderma http://purl.obolibrary.org/obo/HP_0001072 Thickened skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system An abnormality of the skeletal system. http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the eye, including location, spacing, and intraocular abnormalities. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology A structural abnormality of the retina. http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/HP_0001396 Cholestasis Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/HP_0000486 Strabismus http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/HP_0000964 Eczema http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/HP_0000492 Abnormal eyelid morphology http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology An abnormality of the eyelids. http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the pigmentation of the skin. http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal site of the kidney. http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology An abnormality in voluntary or involuntary eye movements or their control. http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology An abnormality of the eyelashes. http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/HP_0000501 Glaucoma http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/HP_0001276 Hypertonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology Reduced strength of muscles. http://purl.obolibrary.org/obo/HP_0100716 Self-injurious behavior http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior Aggression towards oneself. http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology Abnormality of eyesight (visual perception). http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology Inflammation of a joint. http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0000504 Abnormality of vision Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000525 Abnormality iris morphology http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000549 Abnormal conjugate eye movement http://purl.obolibrary.org/obo/HP_0000496 Abnormality of eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0004324 Increased body weight Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0000553 Abnormal uvea morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the uvea, the vascular layer of the eyeball. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the ear. http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. http://purl.obolibrary.org/obo/UBERON_0000004 nose http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/HP_0000726 Dementia http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology The presence of calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/UBERON_0000033 head http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://purl.obolibrary.org/obo/HP_0001997 Gout http://purl.obolibrary.org/obo/HP_0001369 Arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of uric acid-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/UBERON_0000057 urethra http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/HP_0002094 Dyspnea http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality Difficult or labored breathing. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/HP_0000793 Membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/HP_0002099 Asthma http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/HP_0000794 IgA deposition in the glomerulus http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of immunoglobulin A deposits in the glomerulus. http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/HP_0002239 Gastrointestinal hemorrhage http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/HP_0000799 Renal steatosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormal fat accumulation in the kidneys. http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/HP_0002329 Drowsiness http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Excessive daytime sleepiness. http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure A membranous fold of the heart that prevents reflux of fluid http://purl.obolibrary.org/obo/HP_0002633 Vasculitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology Inflammation of blood vessel. http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes Enlargment (swelling) of a lymph node. http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology Cysts of the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/UBERON_0000947 aorta http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/HP_0000804 Xanthine nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of xanthine-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/HP_0012531 Pain Joint pain. http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/UBERON_0000959 optic chiasma http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the endocrine system. http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0000974 neck http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/HP_0000822 Hypertension http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure The presence of chronic increased pressure in the systemic arterial system. http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/UBERON_0000991 gonad http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/HP_0003674 Onset http://purl.obolibrary.org/obo/HP_0031797 Clinical course The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/UBERON_0001007 digestive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/UBERON_0001008 renal system http://purl.obolibrary.org/obo/UBERON_8450002 excretory system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology Excessive production of parathyroid hormone (PTH) by the parathyroid glands. http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/HP_0100512 Low levels of vitamin D http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0001161 body of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system An abnormality of the renin-angiotensin system. http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/HP_0000855 Insulin resistance http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/UBERON_0001224 renal pelvis http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/UBERON_0001264 pancreas http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/UBERON_0001456 face http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/HP_0000953 Hyperpigmentation of the skin http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/HP_0000992 Cutaneous photosensitivity http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/HP_0001072 Thickened skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology Laminar thickening of skin. http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/HP_0001098 Abnormal fundus morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural abnormality of the fundus of the eye. http://purl.obolibrary.org/obo/UBERON_0001768 uvea http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/HP_0001103 Abnormal macular morphology http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly http://purl.obolibrary.org/obo/HP_0011927 Short digit Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. http://purl.obolibrary.org/obo/UBERON_0001769 iris http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/HP_0001251 Ataxia http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/HP_0001257 Spasticity http://purl.obolibrary.org/obo/HP_0001276 Hypertonia A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment Loss of previously present mental abilities, generally in adults. http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/HP_0001305 Dandy-Walker malformation http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The division of the forebrain that develops from the foremost primary cerebral vesicle. http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon Any structural abnormality of the cerebellum. http://purl.obolibrary.org/obo/UBERON_0001908 optic tract http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/HP_0001320 Cerebellar vermis hypoplasia http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis Underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/UBERON_0001987 placenta http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that detects light. http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the liver. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ the gonad of a female organism which contains germ cells http://purl.obolibrary.org/obo/HP_0001396 Cholestasis http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system Impairment of bile flow due to obstruction in bile ducts. http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/HP_0001417 X-linked inheritance http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/UBERON_0002067 dermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Functional system which consists of structures involved in respiration. http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the integument, which consists of the skin and the superficial fascia. http://purl.obolibrary.org/obo/HP_0001595 Abnormal hair morphology http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology An abnormality of the hair. http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The soft tissue that fills the cavities of bones. http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/UBERON_0002495 long bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/HP_0001597 Abnormality of the nail http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology Abnormality of the nail. http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/UBERON_0003129 skull http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/UBERON_0007798 vascular system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart. http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/UBERON_0016490 auditory system http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/UBERON_0018707 bladder organ http://purl.obolibrary.org/obo/UBERON_0009856 sac A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/HP_0001635 Congestive heart failure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. http://purl.obolibrary.org/obo/BFO_0000002 continuant http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/HP_0001669 Transposition of the great arteries http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that has temporal parts and that happens, unfolds or develops through time. http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/HP_0001679 Abnormal aortic morphology http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels An abnormality of the aorta. http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://purl.obolibrary.org/obo/HP_0001710 Conotruncal defect http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/BFO_0000017 realizable entity A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs An abnormality of the pancreas. http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system An abnormality of the spleen. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/BFO_0000035 process boundary http://purl.obolibrary.org/obo/BFO_0000003 occurrent p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the hematopoietic system. http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. http://purl.obolibrary.org/obo/HP_0001877 Abnormal erythrocyte morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues Any structural abnormality of erythrocytes (red-blood cells). http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://purl.obolibrary.org/obo/BFO_0000144 process profile http://purl.obolibrary.org/obo/BFO_0000015 process b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of skeleton which includes upper and lower jaw skeletons. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane http://purl.obolibrary.org/obo/HP_0001892 Abnormal bleeding http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/CLO_0000001 cell line cell http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/HP_0001919 Acute kidney injury http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/CLO_0000019 immortal cell line cell http://purl.obolibrary.org/obo/CLO_0000001 cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel Any of the smallest blood vessels connecting arterioles with venules. http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/CLO_0000031 细胞系 http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/HP_0001920 Renal artery stenosis http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis The presence of stenosis of the renal artery. http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line http://purl.obolibrary.org/obo/CLO_0000031 细胞系 A cell line that is expected to be capable of indefinite propagation in an vitro culture. http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/HP_0001941 Acidosis http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis Abnormal acid accumulation or depletion of base. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis http://purl.obolibrary.org/obo/HP_0001941 Acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. http://purl.obolibrary.org/obo/ENVO_00010483 environmental material http://purl.obolibrary.org/obo/BFO_0000040 material entity A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/GAZ_00000448 geographic location http://purl.obolibrary.org/obo/BFO_0000029 site A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Respiration organ that develops as an outpocketing of the esophagus. http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label http://purl.obolibrary.org/obo/IAO_0000009 datum label A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/HP_0001945 Fever http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Elevated body temperature due to failed thermoregulation. http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/IAO_0000007 action specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity that describes an action the bearer will take. http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://purl.obolibrary.org/obo/UBERON_0002110 gall bladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera An organ that aids digestion and stores bile produced by the liver[WP]. http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/IAO_0000009 datum label http://purl.obolibrary.org/obo/IAO_0000030 information content entity A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/IAO_0000017 model number http://purl.obolibrary.org/obo/IAO_0000028 symbol A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/HP_0001959 Polydipsia http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior Excessive thirst manifested by excessive fluid intake. http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/IAO_0000028 symbol http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/IAO_0000029 numeral http://purl.obolibrary.org/obo/IAO_0000028 symbol A symbol that denotes a number. http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology An abnormality that involves the tubules and interstitial tissue of the kidney. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/IAO_0000031 integer numeral http://purl.obolibrary.org/obo/IAO_0000029 numeral a numeral that denotes an integer http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0001994 Renal Fanconi syndrome http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/IAO_0000033 directive information entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology A structural abnormality of the central nervous system. http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/IAO_0000037 dot plot http://purl.obolibrary.org/obo/IAO_0000038 graph A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/HP_0002012 Abnormality of the abdominal organs http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the viscera of the abdomen. http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/IAO_0000309 diagram A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/HP_0002013 Vomiting http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/IAO_0000078 curation status specification http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/HP_0002014 Diarrhea http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Abnormally increased frequency of loose or watery bowel movements. http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://purl.obolibrary.org/obo/HP_0002017 Nausea and vomiting http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/IAO_0000079 density plot http://purl.obolibrary.org/obo/IAO_0000038 graph A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure An organ involved in reproduction. http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/HP_0002020 Gastroesophageal reflux http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. http://purl.obolibrary.org/obo/IAO_0000100 data set http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ A female organ involved in reproduction http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain http://purl.obolibrary.org/obo/HP_0012531 Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/IAO_0000101 image http://purl.obolibrary.org/obo/IAO_0000308 figure An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/HP_0002039 Anorexia http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology A lack or loss of appetite for food (as a medical condition). http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part http://purl.obolibrary.org/obo/IAO_0000027 data item Data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/HP_0002048 Renal cortical atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy Atrophy of the cortex of the kidney. http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Initial section of the oviduct through which the ova pass from the ovary to the uterus http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/IAO_0000104 plan specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. http://purl.obolibrary.org/obo/HP_0002049 Proximal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0002394 bile duct A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://purl.obolibrary.org/obo/HP_0002060 Abnormal cerebral morphology http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/IAO_0000027 data item A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. http://purl.obolibrary.org/obo/IAO_0000129 version number http://purl.obolibrary.org/obo/IAO_0000028 symbol A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/IAO_0000131 serial number http://purl.obolibrary.org/obo/IAO_0000028 symbol A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is part of a immune system [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/IAO_0000179 histogram http://purl.obolibrary.org/obo/IAO_0000038 graph A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/IAO_0000180 heatmap http://purl.obolibrary.org/obo/IAO_0000038 graph A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The part of the digestive system that excludes the hepatobiliary system. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Abnormality of the cerebral ventricles. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An increase in size of the ventricular system of the brain. http://purl.obolibrary.org/obo/IAO_0000181 Venn diagram http://purl.obolibrary.org/obo/IAO_0000038 graph A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/HP_0002157 Azotemia http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An increased concentration of nitrogen compounds in the blood. http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/IAO_0000183 dendrogram http://purl.obolibrary.org/obo/IAO_0000038 graph A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/HP_0002198 Dilated fourth ventricle http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument http://purl.obolibrary.org/obo/UBERON_0002049 vasculature The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/OGG_0000000001 genome http://purl.obolibrary.org/obo/BFO_0000040 material entity A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/IAO_0000185 photograph http://purl.obolibrary.org/obo/IAO_0000101 image A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/HP_0002240 Hepatomegaly http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly Abnormally increased size of the liver. http://purl.obolibrary.org/obo/OGG_0000000002 gene http://purl.obolibrary.org/obo/BFO_0000040 material entity A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/HP_0002242 Abnormal intestine morphology http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/IAO_0000301 citation http://purl.obolibrary.org/obo/IAO_0000300 textual entity a textual entity intended to identify a particular publication http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/HP_0002315 Headache http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/IAO_0000305 document title http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that names a document http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation An anomaly of the vermis of cerebellum. http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/OGG_0000000010 protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/IAO_0000306 table http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/IAO_0000308 figure http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system An abnormality of the vasculature. http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/IAO_0000309 diagram http://purl.obolibrary.org/obo/IAO_0000308 figure A figure that expresses one or more propositions http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. http://purl.obolibrary.org/obo/OGG_0000000024 ncRNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/IAO_0000310 document http://purl.obolibrary.org/obo/IAO_0000030 information content entity A collection of information content entities intended to be understood together as a whole http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/HP_0002634 Arteriosclerosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. http://purl.obolibrary.org/obo/OGG_0000000027 other gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/HP_0002664 Neoplasm http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Bacteria http://purl.obolibrary.org/obo/IAO_0000415 hypothesis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses an assertion that is intended to be tested. http://purl.obolibrary.org/obo/HP_0002667 Nephroblastoma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum A scalar measurement datum that is the result of measuring a temporal interval http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0002693 Abnormality of the skull base http://purl.obolibrary.org/obo/HP_0000929 Abnormal skull morphology An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria The genome of an organism of Proteobacteria http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is used as directive to deliver something to a person, or organization http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the immune system. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/IAO_0000572 documenting http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a document is created or added to by including the specified input in it. http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Eukaryota http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0002719 Recurrent infections http://purl.obolibrary.org/obo/HP_0032101 Unusual infection Increased susceptibility to infections. http://purl.obolibrary.org/obo/OGG_1000009606 genome of Homo sapiens http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota The genome of an organism of Homo sapiens http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system A lymph node abnormality. http://purl.obolibrary.org/obo/IAO_0000590 written name http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that denotes a particular in reality. http://purl.obolibrary.org/obo/OGG_1000208964 genome of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria The genome of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone Any abnormality of bones of the arms or legs. http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Bacteria http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/HP_0002905 Hyperphosphatemia http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration An abnormally increased phosphate concentration in the blood. http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0002907 Microscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/BFO_0000015 process A process that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/HP_0002917 Hypomagnesemia http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration An abnormally decreased magnesium concentration in the blood. http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality An abnormality of the cerebrospinal fluid (CSF). http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/BFO_0000040 material entity Is a material entity that is created or changed during material processing. http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria A gene of an organism of Proteobacteria http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/OBI_0000066 investigation http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality Absence or underdevelopment of tissue in the central nervous system. http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OBI_0000067 evaluant role http://purl.obolibrary.org/obo/BFO_0000023 role a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Abnormality originating in one or more muscles, i.e., of the set of muscles of body. http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Eukaryota http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota A gene of an organism of Homo sapiens http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration An abnormally increased calcium concentration in the blood. http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/HP_0003073 Hypoalbuminemia http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level Reduction in the concentration of albumin in the blood. http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria A gene of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration An increased concentration of glucose in the blood. http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0003076 Glycosuria http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration An increased concentration of glucose in the urine. http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a protein-coding gene disposition http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormality of the composition of urine or the levels of its components. http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens A gene of Homo sapiens that has a ncRNA gene disposition http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/OBI_0000075 diagnosis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. http://purl.obolibrary.org/obo/HP_0003127 Hypocalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration An abnormally decreased calcium concentration in the urine. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/RO_0002310 exposure event or process http://purl.obolibrary.org/obo/BFO_0000015 process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally increased serum levels of alkaline phosphatase activity. http://purl.obolibrary.org/obo/HP_0003198 Myopathy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/OBI_0000079 culture medium http://purl.obolibrary.org/obo/OBI_0000047 processed material a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/HP_0003271 Visceromegaly http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology Abnormal increased size of the viscera of the abdomen. http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://purl.obolibrary.org/obo/OBI_0000097 participant under investigation role http://purl.obolibrary.org/obo/BFO_0000023 role A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/HP_0003282 Low alkaline phosphatase http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level Abnormally reduced serum levels of alkaline phosphatase. http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OBI_0000112 specimen role http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology Any anomaly in the composite material or the layered arrangement of the bony skeleton. http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/HP_0003351 Decreased circulating renin level http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin An decreased level of renin in the blood. http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0000181 population http://purl.obolibrary.org/obo/BFO_0000040 material entity a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0011885 tubulointerstitial nephritis and uveitis syndrome http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/BFO_0000040 material entity An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0000272 protocol http://purl.obolibrary.org/obo/IAO_0000104 plan specification A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/OBI_0000274 adding a material entity into a target http://purl.obolibrary.org/obo/OBI_0000652 material combination is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. http://purl.obolibrary.org/obo/HP_0003513 Reduced ratio of renal calcium clearance to creatinine clearance http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/OBI_0000275 analyte role http://purl.obolibrary.org/obo/OBI_0002444 measurand role A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://purl.obolibrary.org/obo/OBI_0000319 material to be added role http://purl.obolibrary.org/obo/BFO_0000023 role material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/HP_0003581 Adult onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/HP_0003593 Infantile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between 28 days to one year of life. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://purl.obolibrary.org/obo/OBI_0000338 drawing a conclusion based on data http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/HP_0003621 Juvenile onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of signs or symptoms of disease between the age of 5 and 15 years. http://purl.obolibrary.org/obo/OBI_0000339 planning http://purl.obolibrary.org/obo/BFO_0000015 process a process of creating or modifying a plan specification http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0002621 Atherosclerosis The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. http://purl.obolibrary.org/obo/OBI_0000355 hypothesis driven investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation with the goal to test one or more hypothesis http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/HP_0003774 Stage 5 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0000356 hypothesis generating investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/HP_0004297 Abnormality of the biliary system http://purl.obolibrary.org/obo/HP_0001392 Abnormality of the liver An abnormality of the biliary system. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/OBI_0000383 transfer function http://purl.obolibrary.org/obo/BFO_0000034 function A transfer function is a function to displace a material from one location to another. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/OBI_0000399 solid support function http://purl.obolibrary.org/obo/BFO_0000034 function A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/OBI_0000434 adding material objective http://purl.obolibrary.org/obo/OBI_0000686 material combination objective is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://purl.obolibrary.org/obo/HP_0004324 Increased body weight http://purl.obolibrary.org/obo/HP_0004323 Abnormality of body weight Abnormally increased body weight. http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology Any structural anomaly of the vitreous body. http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/OBI_0000436 needle http://purl.obolibrary.org/obo/OBI_0000968 device A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/OBI_0000437 analyte measurement objective http://purl.obolibrary.org/obo/OBI_0000441 assay objective an assay objective to determine the presence or concentration of an analyte in the evaluant http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. http://purl.obolibrary.org/obo/HP_0004354 Abnormal circulating carboxylic acid concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OBI_0000441 assay objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/HP_0004363 Abnormal circulating calcium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration Any deviation from the normal concentration of calcium in the blood circulation. http://purl.obolibrary.org/obo/OBI_0000443 analyte assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/OBI_0000444 target of material addition role http://purl.obolibrary.org/obo/BFO_0000023 role target of material addition role is a role realized by an entity into which a material is added in a material addition process http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/HP_0004379 Abnormality of alkaline phosphatase level http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity An abnormality of alkaline phosphatase level. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/OBI_0000453 measure function http://purl.obolibrary.org/obo/BFO_0000034 function Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal collecting system. http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/OBI_0000457 manufacturing http://purl.obolibrary.org/obo/OBI_0000094 material processing A planned process with the objective to produce a processed material which will have a function for future use. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/OBI_0000458 manufacturing objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is the objective to manufacture a material of a certain function (device) http://purl.obolibrary.org/obo/HP_0004921 Abnormal magnesium concentration http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration An abnormality of magnesium ion homeostasis. http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/HP_0005445 Enlarged posterior fossa http://purl.obolibrary.org/obo/HP_0000932 Abnormal posterior cranial fossa morphology Abnormal increased size of the posterior cranial fossa. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/OBI_0000471 study design execution http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that carries out a study design http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/HP_0006000 Ureteral obstruction http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology Obstruction of the flow of urine through the ureter. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. http://purl.obolibrary.org/obo/OBI_0000571 manufacturer role http://purl.obolibrary.org/obo/BFO_0000023 role Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/HP_0006817 Aplasia/Hypoplasia of the cerebellar vermis http://purl.obolibrary.org/obo/HP_0002334 Abnormality of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/OBI_0000639 material separation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to transform a material entity into spatially separated components. http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. http://purl.obolibrary.org/obo/OBI_0000652 material combination http://purl.obolibrary.org/obo/OBI_0000094 material processing is a material processing with the objective to combine two or more material entities as input into a single material entity as output. http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/HP_0007700 Ocular anterior segment dysgenesis http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/OBI_0000671 sample from organism http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism a material obtained from an organism in order to be a representative of the whole http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/HP_0031684 Renal artery atherosclerosis http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology An atherosclerotic lesion located in the renal artery. http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the iris. http://purl.obolibrary.org/obo/OBI_0000678 portioning objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://purl.obolibrary.org/obo/OBI_0000681 separation into different composition objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection http://purl.obolibrary.org/obo/HP_0032169 Severe infection An unusually severe viral infection. http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/HP_0008055 Aplasia/Hypoplasia affecting the uvea http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/OBI_0000684 specimen collection objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification A objective specification to obtain a material entity for potential use as an input during an investigation. http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/OBI_0000686 material combination objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to obtain an output material that contains several input materials. http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/OBI_0002460 defined population inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia Incomplete maturation or aberrant formation of the male gametes. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/OBI_0000725 host role http://purl.obolibrary.org/obo/BFO_0000023 role host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0020639 monosomy http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Absence or underdevelopment of the kidney. http://purl.obolibrary.org/obo/OBI_0000740 material sample role http://purl.obolibrary.org/obo/OBI_0000112 specimen role A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/OBI_0000806 material maintenance objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification An objective specification maintains some or all of the qualities of a material over time. http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the renal artery. http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease or disorder that involves the retroperitoneal space. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/OBI_0000810 informed consent process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/OBI_0000832 measurement device http://purl.obolibrary.org/obo/OBI_0000968 device A device in which a measure function inheres. http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/HP_0010442 Polydactyly http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology A congenital anomaly characterized by the presence of supernumerary fingers or toes. http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/OBI_0000835 manufacturer http://purl.obolibrary.org/obo/BFO_0000040 material entity A person or organization that has a manufacturer role. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://purl.obolibrary.org/obo/OBI_0000838 material maintenance http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to maintain some or all of the characteristics of an input material over time. http://purl.obolibrary.org/obo/OPMI_0000071 January http://purl.obolibrary.org/obo/OPMI_0000070 month of year The first month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/OBI_0000867 establishing cancer cell line http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal http://purl.obolibrary.org/obo/HP_0010461 Abnormality of the male genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology Abnormality of the male genital system. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://purl.obolibrary.org/obo/OPMI_0000072 February http://purl.obolibrary.org/obo/OPMI_0000070 month of year The second month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://purl.obolibrary.org/obo/OPMI_0000073 March http://purl.obolibrary.org/obo/OPMI_0000070 month of year The third month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/OBI_0000941 service consumer role http://purl.obolibrary.org/obo/BFO_0000023 role a role which inheres in a person who uses a service http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction http://purl.obolibrary.org/obo/HP_0002493 Upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/OPMI_0000074 April http://purl.obolibrary.org/obo/OPMI_0000070 month of year The4th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/HP_0010550 Paraplegia http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis Severe or complete weakness of both lower extremities with sparing of the upper extremities. http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/OPMI_0000075 May http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 5th month of the year in the Gregorian calendar http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/HP_0010551 Paraplegia/paraparesis http://purl.obolibrary.org/obo/HP_0010549 Weakness due to upper motor neuron dysfunction Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://purl.obolibrary.org/obo/OPMI_0000076 June http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 6th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0010566 Hamartoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. http://purl.obolibrary.org/obo/OPMI_0000077 July http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 7th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://purl.obolibrary.org/obo/OBI_0000947 service provider role http://purl.obolibrary.org/obo/BFO_0000023 role is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/HP_0030724 Central nervous system cyst A cystic lesion originating within the brain. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/OPMI_0000078 August http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 8th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OBI_0000953 processed specimen http://purl.obolibrary.org/obo/OBI_0100051 specimen A specimen that has been intentionally physically modified. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration An abnormal level of a circulating protein in the blood. http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/OPMI_0000079 September http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 9th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OBI_0000973 sequence data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of tyrosine in the blood circulation. http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/OPMI_0000080 October http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 10th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration An abnormality of a nucleobase metabolic process. http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/HP_0010935 Abnormality of the upper urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the upper urinary tract. http://purl.obolibrary.org/obo/OPMI_0000081 November http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 11th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0000984 dose http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/HP_0010936 Abnormality of the lower urinary tract http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system An abnormality of the lower urinary tract. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/OPMI_0000082 December http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 12th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/OBI_0001010 nucleic acid extract http://purl.obolibrary.org/obo/OBI_0000953 processed specimen An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/HP_0010946 Dilatation of the renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology The presence of dilatation of the renal pelvis. http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000083 day of week http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A day of a calendar week that includes covers 24 hours each day. http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://purl.obolibrary.org/obo/OPMI_0000084 Monday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The first day of the week. http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/HP_0010950 Abnormality of the fourth ventricle http://purl.obolibrary.org/obo/HP_0002118 Abnormality of the cerebral ventricles An abnormality of the fourth ventricle. http://purl.obolibrary.org/obo/OPMI_0000085 Tuesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The second day of the week. http://purl.obolibrary.org/obo/OBI_0001108 nucleic acid sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of nucleotides in nucleic acid sequences. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system A functional abnormality of the immune system. http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/OPMI_0000086 Wednesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The third day of the week. http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/OBI_0001137 protein sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of amino acids in protein sequences. http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/OPMI_0000087 Thursday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fourth day of the week. http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/HP_0010985 Gonosomal inheritance http://purl.obolibrary.org/obo/HP_0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/OBI_0001151 genetically modified material http://purl.obolibrary.org/obo/OBI_0000047 processed material a material entity, organism or cell, that is the output of a genetic transformation process. http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/OPMI_0000088 Friday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fifth day of the week. http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. http://purl.obolibrary.org/obo/OPMI_0000089 Saturday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 6th day of the week. http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/OBI_0001153 genetic transformation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective a material transformation objective aims to create genetically modified organism or cell http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern http://purl.obolibrary.org/obo/HP_0031797 Clinical course The speed at which disease manifestations appear and develop. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/OPMI_0000090 Sunday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 7th day of the week. http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/OBI_0001173 service http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis Abnormality of glucose homeostasis. http://purl.obolibrary.org/obo/OPMI_0000092 birthday http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time the anniversary of the birth of a person http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/HP_0011015 Abnormal blood glucose concentration http://purl.obolibrary.org/obo/HP_0011014 Abnormal glucose homeostasis An abnormality of the concentration of glucose in the blood. http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service http://purl.obolibrary.org/obo/OBI_0001528 material service A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/OPMI_0000435 child human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/HP_0011016 Abnormality of urine glucose concentration http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An abnormality of the concentration of glucose in the urine. http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Any abnormal sttructure of the glomerular basement membrane. http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/OBI_0001528 material service http://purl.obolibrary.org/obo/OBI_0001173 service A service which has a material entity as specified input and/or specified output. http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Abnormal functionality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://purl.obolibrary.org/obo/OBI_0001547 material analysis service http://purl.obolibrary.org/obo/OBI_0001528 material service A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis Any deviation from the normal concentration of a metabolite in urine. http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis An abnormality of the regulation of body fluids. http://purl.obolibrary.org/obo/OBI_0001557 material storage service http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/HP_0011034 Amyloidosis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/HP_0011035 Abnormal renal cortex morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the cortex of the kidney. http://purl.obolibrary.org/obo/OBI_0001865 assay array http://purl.obolibrary.org/obo/OBI_0000968 device A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction An abnormality of renal absorption. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/HP_0033861 Multilamellation of cortical peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology http://purl.obolibrary.org/obo/HP_0000951 Abnormality of the skin Any morphological abnormality of the skin. http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/HP_0033862 Cortical peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/OBI_0001869 Illumina BeadChip http://purl.obolibrary.org/obo/OBI_0001865 assay array An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/HP_0011138 Abnormality of skin adnexa morphology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. http://purl.obolibrary.org/obo/OBI_0001885 specimen repository organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that provides a service to store and distribute specimens http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration An abnormality of calcium concentration in the urine. http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/OBI_0001891 sequencing facility organization http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization An organization that provides sequence determination service http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/HP_0011283 Abnormality of the metencephalon http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/OBI_0001898 comment on investigation http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is about any of the aspects of an investigation worth noting http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology http://purl.obolibrary.org/obo/HP_0002813 Abnormality of limb bone morphology A morphological abnormality of a digit, i.e., of a finger or toe. http://purl.obolibrary.org/obo/HP_0033865 Medullary peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/OBI_0001900 specimen identifier assigned by specimen repository http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a specimen repository http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/OBI_0001901 specimen identifier assigned by sequencing facility http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a sequencing facility http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the skin that is not localized to any one particular region. http://purl.obolibrary.org/obo/HP_0033866 Medullary peritubular capillary erythrocyte congestion http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). http://purl.obolibrary.org/obo/OBI_0001904 sequencing service http://purl.obolibrary.org/obo/OBI_0001547 material analysis service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/HP_0033867 Multilamellation of medullary peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://purl.obolibrary.org/obo/HP_0011389 Functional abnormality of the inner ear http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear An abnormality of the function of the inner ear. http://purl.obolibrary.org/obo/OBI_0001906 cancer cell line http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination An abnormality of myelination of nerves in the central nervous system. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/OBI_0001907 immortalizing cell line transformation http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/OBI_0001909 conclusion based on data http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is inferred from data. http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/HP_0033869 Medullary peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0011425 Fetal ultrasound soft marker http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/OBI_0001912 cell freezing medium http://purl.obolibrary.org/obo/OBI_0000047 processed material A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An anomaly of the control or production of movement in the central nervous system. http://purl.obolibrary.org/obo/HP_0033870 Medullary peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/OBI_0001930 categorical value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specification that is specifies one category out of a fixed number of nominal categories http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0033871 Medullary peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Cognitive, psychiatric or memory anomaly. http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/HP_0011563 Abnormal ventriculoarterial connection http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/OBI_0001933 value specification http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that specifies a value within a classification scheme or on a quantitative scale. http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/HP_0033872 Cortical peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/OBI_0100051 specimen http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has the specimen role. http://purl.obolibrary.org/obo/HP_0033873 Cortical peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/OBI_0302859 genetically modified organism http://purl.obolibrary.org/obo/OBI_0100026 organism an organism that is the output of a genetic transformation process http://purl.obolibrary.org/obo/HP_0033874 Cortical peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/HP_0011603 Congenital malformation of the great arteries http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels Defect or defects of the morphogenesis of the aorta and pulmonary arteries. http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/OBI_0302884 extraction http://purl.obolibrary.org/obo/OBI_0600014 material component separation A material separation in which a desired component of an input material is separated from the remainder http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/OBI_0302893 storage http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability http://purl.obolibrary.org/obo/HP_0033876 Arcuate vein lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/HP_0000834 Abnormality of the adrenal glands A functional abnormality of the adrenal glands. http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. http://purl.obolibrary.org/obo/HP_0033877 Arcuate vein intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/HP_0011767 Abnormality of the parathyroid physiology http://purl.obolibrary.org/obo/HP_0000828 Abnormality of the parathyroid gland A functional abnormality of the parathyroid gland. http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/HP_0033878 Arcuate vein lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OBI_0600004 human subject enrollment http://purl.obolibrary.org/obo/OBI_0001928 selection A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/HP_0033880 Arcuate vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/HP_0033881 Arcuate vein intimal/medial myxomatous degeneration http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo http://purl.obolibrary.org/obo/OBI_0000011 planned process A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/HP_0033882 Arcuate vein intima/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to type of histological abnormality. http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/OBI_0600014 material component separation http://purl.obolibrary.org/obo/OBI_0000094 material processing a material processing in which components of an input material become segregated in space http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site http://purl.obolibrary.org/obo/HP_0002664 Neoplasm Neoplasm categorized according to the anatomical site of origin of the neoplasm. http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OBI_0600024 maintaining cell culture http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A planned process with the objective to keep cells alive in a defined environment outside of an organism. http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an embryonal neoplasm of the kidney that primarily affects children. http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture http://purl.obolibrary.org/obo/OBI_0000094 material processing a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A functional abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/OBI_0600047 sequencing assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay the uses chemical or biochemical means to infer the sequence of a biomaterial http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/HP_0003011 Abnormality of the musculature A structural abnormality of a skeletal muscle. http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/HP_0033885 Cortical radial artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system An abnormality of the form, structure, or size of the skeletal system. http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/OBI_0666667 nucleic acid extraction http://purl.obolibrary.org/obo/OBI_0302884 extraction a material separation to recover the nucleic acid fraction of an input material http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/HP_0011844 Abnormal appendicular skeleton morphology http://purl.obolibrary.org/obo/HP_0011842 Abnormality of skeletal morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/OBI_1110022 adaptive immune receptor http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/HP_0033887 Cortical radial artery intimal/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/OGMS_0000015 clinical history http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A series of statements representing health-relevant qualities of a patient and of a patient's family. http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/HP_0011927 Short digit http://purl.obolibrary.org/obo/HP_0011297 Abnormal digit morphology One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OGMS_0000031 disease http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system An infection of the upper or lower respiratory tract. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology http://purl.obolibrary.org/obo/HP_0001732 Abnormality of the pancreas An anomaly of the function of the pancreas. http://purl.obolibrary.org/obo/OGMS_0000090 treatment http://purl.obolibrary.org/obo/OGMS_0000096 health care process A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/HP_0012116 Abnormal albumin level http://purl.obolibrary.org/obo/HP_0010876 Abnormal circulating protein level Deviation from normal concentration of albumin in the blood. http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/HP_0000077 Abnormality of the kidney Any structural anomaly of the kidney. http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/PATO_0001018 physical quality A time quality inhering in a bearer by virtue of how long the bearer has existed. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology An abnormal functionality of the kidney. http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/HP_0000078 Abnormality of the genital system A structural or developmental anomaly of any of the tissues involved in the genital system. http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/HP_0033891 Renal arteriolar lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A structural anomaly of the globe of the eye, or bulbus oculi. http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/PATO_0000047 biological sex http://purl.obolibrary.org/obo/PATO_0001241 physical object quality 患者生理性别在特定编码体系中的代码 http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye A functional anomaly of the eye. http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/HP_0033893 Renal arteriolar lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology Partial or complete wasting (loss) of brain tissue that was once present. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/PATO_0000383 female http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0033894 Renal arteriolar intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/HP_0012447 Abnormal myelination http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A structural anomaly of the nephron. http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Atrophy of the kidney. http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion An abnormal amount of urine production. http://purl.obolibrary.org/obo/PATO_0000384 male http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/HP_0033897 Arcuate artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/HP_0033898 Arcuate artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/HP_0012591 Abnormal urinary electrolyte concentration http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An abnormality in the concentration of electrolytes in the urine. http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0033899 Arcuate artery lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis An anomalous finding in the examination of the urine for cells. http://purl.obolibrary.org/obo/PATO_0001025 pressure http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Functional anomaly of the kidney persisting for at least three months. http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/HP_0033900 Renal arteriole intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A functional anomaly of the nervous system. http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/PATO_0001374 ploidy http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/HP_0012639 Abnormal nervous system morphology http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system A structural anomaly of the nervous system. http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/HP_0012718 Morphological abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology Abnormal structure of the gastrointestinal tract. http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/HP_0033902 Arcuate artery endotheliosis http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/PATO_0001396 cellular quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. http://purl.obolibrary.org/obo/PATO_0001548 quality of a liquid http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/HP_0100022 Abnormality of movement http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. http://purl.obolibrary.org/obo/HP_0033904 Renal arteriole intima/media hyalinosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. http://purl.obolibrary.org/obo/HP_0033905 Arcuate artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. http://purl.obolibrary.org/obo/HP_0033907 Renal arteriole intima/media arteriolosclerosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/PATO_0001995 organismal quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/HP_0100242 Sarcoma http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0100324 Scleroderma http://purl.obolibrary.org/obo/HP_0001072 Thickened skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/PR_000018263 amino acid chain An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/HP_0100529 Abnormal blood phosphate concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of phosphate homeostasis or concentration in the body. http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response Inflammation of the eye, parts of the eye or the periorbital region. http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormal site of the kidney. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/HP_0100543 Cognitive impairment http://purl.obolibrary.org/obo/HP_0011446 Abnormality of higher mental function Abnormality in the process of thought including the ability to process information. http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/PR_000001004 CD4 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/HP_0100545 Arterial stenosis http://purl.obolibrary.org/obo/HP_0011004 Abnormal systemic arterial morphology Narrowing or constriction of the inner surface (lumen) of an artery. http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/HP_0100547 Abnormality of forebrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/HP_0100716 Self-injurious behavior http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior Aggression towards oneself. http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/PR_000025402 T cell receptor co-receptor CD8 http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://purl.obolibrary.org/obo/UO_0000003 time unit http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label A unit which is a standard measure of the dimension in which events occur in sequence. http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/VO_0000001 vaccine http://purl.obolibrary.org/obo/OBI_0000047 processed material A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality An abnormality of emotional behaviour. http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://purl.obolibrary.org/obo/CHEBI_36588 cyclic pseudoketone http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any structural abnormality of the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/DRON_00000001 clinical drug role http://purl.obolibrary.org/obo/BFO_0000023 role the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/OGMS_0000097 health care encounter http://purl.obolibrary.org/obo/BFO_0000015 process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/UBERON_0000004 nose http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/OGMS_0000104 diagnostic process http://purl.obolibrary.org/obo/OGMS_0000096 health care process A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in an entity realized by social interactions in human society. http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/UBERON_0000033 head http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The head is the anterior-most division of the body [GO]. http://purl.obolibrary.org/obo/UBERON_0000057 urethra http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/OMRSE_00000033 aggregate of organizations http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system The organs and associated structures associated with bearing offspring in a female animal. http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/OMRSE_00000038 legal person role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of trunk that lies between the head and the abdomen. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure A membranous fold of the heart that prevents reflux of fluid http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/FOODON_03400361 agency food product type http://purl.obolibrary.org/obo/FOODON_00002403 food material An agency food product type is a class of food product defined by an agency or consortium. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/UBERON_0000947 aorta http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/UBERON_0000959 optic chiasma http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon A decussation of the diencephalon where the fibers of the optic nerve cross http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0140014 mitotic nuclear division http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/UBERON_0000974 neck http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/UBERON_0000991 gonad http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Reproductive organ that produces and releases eggs (ovary) or sperm (testis). http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/UBERON_0001003 skin epidermis http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure The outer epithelial layer of the skin that is superficial to the dermis. http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/UBERON_0001007 digestive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0001008 renal system http://purl.obolibrary.org/obo/UBERON_8450002 excretory system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization http://purl.obolibrary.org/obo/GO_0030030 cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A filament, mostly protein, that grows from follicles found in the dermis[WP]. http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/UBERON_0001161 body of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/NCIT_C25347 Height http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct http://purl.obolibrary.org/obo/NCIT_C25352 International Normalized Ratio http://purl.obolibrary.org/obo/CMO_0000035 blood measurement A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/MONDO_0021178 injury http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/UBERON_0001224 renal pelvis http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm (disease) that involves the thoracic segment of trunk. http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A neoplasm (disease) that involves the uterus. http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A neoplasm (disease) that involves the adipose tissue. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm A benign neoplasm that involves the zone of skin. http://purl.obolibrary.org/obo/UBERON_0001264 pancreas http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A benign neoplasm that involves the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0001456 face http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease that involves the renal tubule. http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/KTAO_0000005 AKI patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of acute kidney injury (AKI). http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/KTAO_0000006 CKD patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of chronic kidney disease (CKD). http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/UBERON_0001768 uvea http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A disorder of the blood that is present at birth. http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/MONDO_0020579 mucositis http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease Inflammation of the mucous membranes. http://purl.obolibrary.org/obo/UBERON_0001769 iris http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4948 HLA-DRB1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HLA-DRB1 in human. http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/CL_4030008 pronephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/HP_0034230 Inferior crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/HP_0034231 Sigmoid kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The division of the forebrain that develops from the foremost primary cerebral vesicle. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/HP_0034232 Unilateral lump kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/UBERON_0001908 optic tract http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/UBERON_0001987 placenta http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/HP_0034233 Disc kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which kidneys fuse along their medial borders. http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0034234 L-shaped kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/HP_0034235 Superior crossed-fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/UBERON_0002067 dermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/HP_0034239 Renal vein thrombosis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] http://purl.obolibrary.org/obo/HP_0034242 Abnormal fetal genitourinary system morphology http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/CL_4030022 renal medullary fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal medulla interstitium. http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/CL_4030019 kidney connecting tubule intercalated cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The soft tissue that fills the cavities of bones. http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/CL_4030020 kidney connecting tubule alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/CL_4030021 kidney connecting tubule beta-intercalated cell http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/CL_4030025 renal cortical fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal cortical interstitium. http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/CL_4030031 interstitial cell http://purl.obolibrary.org/obo/CL_0000000 cell Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid Any of a class of steroid hormones that are produced in the adrenal cortex. http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_51270 tetracenes http://purl.obolibrary.org/obo/CHEBI_51269 acenes Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic molecular entity containing a single carbon atom (C1). http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/CHEBI_75772 Saccharomyces cerevisiae metabolite http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Anatomical system that is involved in the production of hematopoietic cells. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/UBERON_0002495 long bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/CHEBI_15339 acceptor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/CHEBI_16134 ammonia http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/UBERON_0003129 skull http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/CHEBI_16842 formaldehyde http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/CHEBI_17891 donor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A duct that collects and carries secretions of the exocrine pancreas to the intestine. http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/CHEBI_18154 polysaccharide http://purl.obolibrary.org/obo/CHEBI_167559 glycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. http://purl.obolibrary.org/obo/UBERON_0007798 vascular system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of all blood and lymph vessels. http://purl.obolibrary.org/obo/CHEBI_18248 iron atom http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/CHEBI_23888 drug http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/UBERON_0010743 meningeal cluster http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The collection of all meningeal layers that line a central nervous system. http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/CHEBI_24433 group http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/CHEBI_24621 hormone http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/UBERON_0016490 auditory system http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system is the sensory system for the sense of hearing. http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/CHEBI_26188 polyketide http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/UBERON_0018707 bladder organ http://purl.obolibrary.org/obo/UBERON_0009856 sac A membranous sac in animals that serves as the receptacle of a liquid or contains gas. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/CHEBI_26348 prosthetic group http://purl.obolibrary.org/obo/CHEBI_23357 cofactor A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000002 continuant http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000001 entity An entity that has temporal parts and that happens, unfolds or develops through time. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://purl.obolibrary.org/obo/CHEBI_28616 carbamic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://purl.obolibrary.org/obo/CHEBI_32600 tetracene http://purl.obolibrary.org/obo/CHEBI_35297 acene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/BFO_0000017 realizable entity A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000002 continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/CHEBI_33252 atomic nucleus http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000035 process boundary http://purl.obolibrary.org/obo/BFO_0000003 occurrent p is a process boundary =Def. p is a temporal part of a process & p has no proper temporal parts. (axiom label in BFO2 Reference: [084-001]) http://purl.obolibrary.org/obo/CHEBI_33284 nutrient http://purl.obolibrary.org/obo/CHEBI_78295 food component A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. http://purl.obolibrary.org/obo/CHEBI_33696 nucleic acid http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000144 process profile http://purl.obolibrary.org/obo/BFO_0000015 process b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/CLO_0000001 cell line cell http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/CHEBI_35107 azane http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/CLO_0000019 immortal cell line cell http://purl.obolibrary.org/obo/CLO_0000001 cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug Any antimicrobial drug which is used to treat or prevent protozoal infections. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/CLO_0000031 细胞系 http://purl.obolibrary.org/obo/OBI_0001905 secondary cultured cell population 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/CHEBI_36080 protein http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CHEBI_37527 acid http://purl.obolibrary.org/obo/CHEBI_51086 chemical role An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line http://purl.obolibrary.org/obo/CLO_0000031 细胞系 A cell line that is expected to be capable of indefinite propagation in an vitro culture. http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/ENVO_00010483 environmental material http://purl.obolibrary.org/obo/BFO_0000040 material entity A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxin http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GAZ_00000448 geographic location http://purl.obolibrary.org/obo/BFO_0000029 site A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/CHEBI_51086 chemical role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label http://purl.obolibrary.org/obo/IAO_0000009 datum label A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CHEBI_59740 nucleophilic reagent http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/CHEBI_60242 monovalent inorganic cation http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000007 action specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity that describes an action the bearer will take. http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/IAO_0000009 datum label http://purl.obolibrary.org/obo/IAO_0000030 information content entity A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://purl.obolibrary.org/obo/IAO_0000017 model number http://purl.obolibrary.org/obo/IAO_0000028 symbol A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/IAO_0000028 symbol http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/IAO_0000029 numeral http://purl.obolibrary.org/obo/IAO_0000028 symbol A symbol that denotes a number. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/CHEBI_77941 EC 3.5.1.4 (amidase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant A generically dependent continuant that is about some thing. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/IAO_0000031 integer numeral http://purl.obolibrary.org/obo/IAO_0000029 numeral a numeral that denotes an integer http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-) http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride A divalent inorganic anion resulting from the removal of two protons from ammonia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000033 directive information entity http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/IAO_0000037 dot plot http://purl.obolibrary.org/obo/IAO_0000038 graph A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. http://purl.obolibrary.org/obo/CHEBI_33658 arene http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/CHEBI_50313 onium cation http://purl.obolibrary.org/obo/CHEBI_50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/IAO_0000309 diagram A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/IAO_0000078 curation status specification http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/IAO_0000079 density plot http://purl.obolibrary.org/obo/IAO_0000038 graph A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/IAO_0000100 data set http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/IAO_0000101 image http://purl.obolibrary.org/obo/IAO_0000308 figure An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. http://purl.obolibrary.org/obo/CL_0000001 primary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://purl.obolibrary.org/obo/IAO_0000102 data about an ontology part http://purl.obolibrary.org/obo/IAO_0000027 data item Data about an ontology part is a data item about a part of an ontology, for example a term http://purl.obolibrary.org/obo/CL_0000007 early embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/IAO_0000104 plan specification http://purl.obolibrary.org/obo/IAO_0000033 directive information entity A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. http://purl.obolibrary.org/obo/CL_0000010 cultured cell http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro A cell in vitro that is or has been maintained or propagated as part of a cell culture. http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/IAO_0000027 data item A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/CL_0000034 stem cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/IAO_0000129 version number http://purl.obolibrary.org/obo/IAO_0000028 symbol A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/IAO_0000131 serial number http://purl.obolibrary.org/obo/IAO_0000028 symbol A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/IAO_0000179 histogram http://purl.obolibrary.org/obo/IAO_0000038 graph A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/CL_0000040 monoblast http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/IAO_0000180 heatmap http://purl.obolibrary.org/obo/IAO_0000038 graph A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/IAO_0000181 Venn diagram http://purl.obolibrary.org/obo/IAO_0000038 graph A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/IAO_0000183 dendrogram http://purl.obolibrary.org/obo/IAO_0000038 graph A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/IAO_0000185 photograph http://purl.obolibrary.org/obo/IAO_0000101 image A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/IAO_0000301 citation http://purl.obolibrary.org/obo/IAO_0000300 textual entity a textual entity intended to identify a particular publication http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell A stem cell from which all cells of the body can form. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell with a limited number of potential fates. http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://purl.obolibrary.org/obo/IAO_0000305 document title http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that names a document http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://purl.obolibrary.org/obo/CL_0000056 myoblast http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/IAO_0000306 table http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000057 fibroblast http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/IAO_0000308 figure http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/CL_0000064 ciliated cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that has a filiform extrusion of the cell surface. http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://purl.obolibrary.org/obo/IAO_0000309 diagram http://purl.obolibrary.org/obo/IAO_0000308 figure A figure that expresses one or more propositions http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/IAO_0000310 document http://purl.obolibrary.org/obo/IAO_0000030 information content entity A collection of information content entities intended to be understood together as a whole http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/CL_0000067 ciliated epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/IAO_0000415 hypothesis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses an assertion that is intended to be tested. http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum http://purl.obolibrary.org/obo/IAO_0000032 scalar measurement datum A scalar measurement datum that is the result of measuring a temporal interval http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is used as directive to deliver something to a person, or organization http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/CL_0000068 duct epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that is part of a duct. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000572 documenting http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a document is created or added to by including the specified input in it. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/IAO_0000590 written name http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that denotes a particular in reality. http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/BFO_0000015 process A process that realizes a plan which is the concretization of a plan specification. http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000081 blood cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell found predominately in the blood. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/BFO_0000040 material entity Is a material entity that is created or changed during material processing. http://purl.obolibrary.org/obo/CL_0000083 epithelial cell of pancreas http://purl.obolibrary.org/obo/CL_0002371 somatic cell An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000066 investigation http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/CL_0000084 T cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/OBI_0000067 evaluant role http://purl.obolibrary.org/obo/BFO_0000023 role a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/CL_0000092 osteoclast http://purl.obolibrary.org/obo/CL_0001035 bone cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/CL_0000094 granulocyte http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A leukocyte with abundant granules in the cytoplasm. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/OBI_0000075 diagnosis textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil http://purl.obolibrary.org/obo/CL_0000775 neutrophil A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000079 culture medium http://purl.obolibrary.org/obo/OBI_0000047 processed material a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_0000097 mast cell http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/OBI_0000097 participant under investigation role http://purl.obolibrary.org/obo/BFO_0000023 role A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/OBI_0000112 specimen role http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000113 mononuclear phagocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A vertebrate phagocyte with a single nucleus. http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/OBI_0000181 population http://purl.obolibrary.org/obo/BFO_0000040 material entity a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/BFO_0000040 material entity An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000115 endothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_0000133 neurectodermal cell http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell Ectoderm destined to be nervous tissue. http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/OBI_0000272 protocol http://purl.obolibrary.org/obo/IAO_0000104 plan specification A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/CL_0000134 mesenchymal stem cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/OBI_0000274 adding a material entity into a target http://purl.obolibrary.org/obo/OBI_0000652 material combination is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/CL_0000135 fibrocyte http://purl.obolibrary.org/obo/CL_0000499 stromal cell An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/OBI_0000275 analyte role http://purl.obolibrary.org/obo/OBI_0002444 measurand role A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000319 material to be added role http://purl.obolibrary.org/obo/BFO_0000023 role material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_0000150 glandular epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000338 drawing a conclusion based on data http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that specializes in controlled release of one or more substances. http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://purl.obolibrary.org/obo/OBI_0000339 planning http://purl.obolibrary.org/obo/BFO_0000015 process a process of creating or modifying a plan specification http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://purl.obolibrary.org/obo/OBI_0000355 hypothesis driven investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation with the goal to test one or more hypothesis http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_0000164 enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://purl.obolibrary.org/obo/OBI_0000356 hypothesis generating investigation http://purl.obolibrary.org/obo/OBI_0000066 investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/OBI_0000383 transfer function http://purl.obolibrary.org/obo/BFO_0000034 function A transfer function is a function to displace a material from one location to another. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/OBI_0000399 solid support function http://purl.obolibrary.org/obo/BFO_0000034 function A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000183 contractile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/OBI_0000434 adding material objective http://purl.obolibrary.org/obo/OBI_0000686 material combination objective is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/CL_0000186 myofibroblast cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000436 needle http://purl.obolibrary.org/obo/OBI_0000968 device A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/CL_0000187 muscle cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/OBI_0000437 analyte measurement objective http://purl.obolibrary.org/obo/OBI_0000441 assay objective an assay objective to determine the presence or concentration of an analyte in the evaluant http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_0000192 smooth muscle cell http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000441 assay objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/CL_0000211 electrically active cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose function is determined by the generation or the reception of an electric signal. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000443 analyte assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_0000213 lining cell http://purl.obolibrary.org/obo/CL_0000215 barrier cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000444 target of material addition role http://purl.obolibrary.org/obo/BFO_0000023 role target of material addition role is a role realized by an entity into which a material is added in a material addition process http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/CL_0000214 synovial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A cell located in the synovial joint. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000453 measure function http://purl.obolibrary.org/obo/BFO_0000034 function Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/CL_0000215 barrier cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell whose primary function is to prevent the transport of stuff across compartments. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000457 manufacturing http://purl.obolibrary.org/obo/OBI_0000094 material processing A planned process with the objective to produce a processed material which will have a function for future use. http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that moves by its own activities. http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000458 manufacturing objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is the objective to manufacture a material of a certain function (device) http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000471 study design execution http://purl.obolibrary.org/obo/OBI_0000011 planned process a planned process that carries out a study design http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000571 manufacturer role http://purl.obolibrary.org/obo/BFO_0000023 role Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/OBI_0000639 material separation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to transform a material entity into spatially separated components. http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://purl.obolibrary.org/obo/CL_0000223 endodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/OBI_0000652 material combination http://purl.obolibrary.org/obo/OBI_0000094 material processing is a material processing with the objective to combine two or more material entities as input into a single material entity as output. http://purl.obolibrary.org/obo/CL_0000225 anucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that lacks a nucleus. http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://purl.obolibrary.org/obo/CL_0000226 single nucleate cell http://purl.obolibrary.org/obo/CL_0002242 nucleate cell A cell with a single nucleus. http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000671 sample from organism http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism a material obtained from an organism in order to be a representative of the whole http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/CL_0000232 erythrocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000678 portioning objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_0000233 platelet http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000681 separation into different composition objective http://purl.obolibrary.org/obo/OBI_0000639 material separation objective A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). http://purl.obolibrary.org/obo/CL_0000234 phagocyte http://purl.obolibrary.org/obo/CL_0000473 defensive cell Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/OBI_0000684 specimen collection objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification A objective specification to obtain a material entity for potential use as an input during an investigation. http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000235 macrophage http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/CL_0000236 B cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_0000313 serous secreting cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/OBI_0000686 material combination objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective is an objective to obtain an output material that contains several input materials. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/CL_0000325 stuff accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/OBI_0000725 host role http://purl.obolibrary.org/obo/BFO_0000023 role host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/OBI_0000740 material sample role http://purl.obolibrary.org/obo/OBI_0000112 specimen role A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/OBI_0000806 material maintenance objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification An objective specification maintains some or all of the qualities of a material over time. http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000810 informed consent process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_0000335 mesenchyme condensation cell http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0000832 measurement device http://purl.obolibrary.org/obo/OBI_0000968 device A device in which a measure function inheres. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/OBI_0000835 manufacturer http://purl.obolibrary.org/obo/BFO_0000040 material entity A person or organization that has a manufacturer role. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/OBI_0000838 material maintenance http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to maintain some or all of the characteristics of an input material over time. http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/CL_0000352 epiblast cell http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/OBI_0000867 establishing cancer cell line http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell A smooth muscle cell associated with the vasculature. http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/OBI_0000941 service consumer role http://purl.obolibrary.org/obo/BFO_0000023 role a role which inheres in a person who uses a service http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/OBI_0000947 service provider role http://purl.obolibrary.org/obo/BFO_0000023 role is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/CL_0000365 animal zygote http://purl.obolibrary.org/obo/CL_0010017 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. http://purl.obolibrary.org/obo/OBI_0000953 processed specimen http://purl.obolibrary.org/obo/OBI_0100051 specimen A specimen that has been intentionally physically modified. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/OBI_0000973 sequence data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/OBI_0000984 dose http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/CL_0000393 electrically responsive cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/CL_0000404 electrically signaling cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/OBI_0001010 nucleic acid extract http://purl.obolibrary.org/obo/OBI_0000953 processed specimen An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/OBI_0001108 nucleic acid sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of nucleotides in nucleic acid sequences. http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/CL_0000451 dendritic cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000458 serotonin secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/CL_0000473 defensive cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to protect the organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/OBI_0001137 protein sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device An device that is used to determine the order of amino acids in protein sequences. http://purl.obolibrary.org/obo/CL_0000499 stromal cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0001151 genetically modified material http://purl.obolibrary.org/obo/OBI_0000047 processed material a material entity, organism or cell, that is the output of a genetic transformation process. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_0000514 smooth muscle myoblast http://purl.obolibrary.org/obo/CL_0000056 myoblast A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/OBI_0001153 genetic transformation objective http://purl.obolibrary.org/obo/OBI_0000456 material transformation objective a material transformation objective aims to create genetically modified organism or cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_0000518 phagocyte (sensu Vertebrata) http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell A phagocyte in vertebrates that is able to phagocytosis. http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/CL_0002319 neural cell The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/OBI_0001173 service http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/CL_0000547 proerythroblast http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service http://purl.obolibrary.org/obo/OBI_0001528 material service A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000549 basophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/OBI_0001528 material service http://purl.obolibrary.org/obo/OBI_0001173 service A service which has a material entity as specified input and/or specified output. http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000552 orthochromatic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/OBI_0001547 material analysis service http://purl.obolibrary.org/obo/OBI_0001528 material service A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/OBI_0001557 material storage service http://purl.obolibrary.org/obo/OBI_0001515 material maintenance service A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/OBI_0001865 assay array http://purl.obolibrary.org/obo/OBI_0000968 device A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/OBI_0001866 secondary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/OBI_0001867 establishing cell line http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/CL_0000558 reticulocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0001869 Illumina BeadChip http://purl.obolibrary.org/obo/OBI_0001865 assay array An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/CL_0000559 promonocyte http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0001885 specimen repository organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that provides a service to store and distribute specimens http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/OBI_0001891 sequencing facility organization http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization An organization that provides sequence determination service http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000566 angioblastic mesenchymal cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A mesenchymal stem cell capable of developing into blood vessel endothelium. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/OBI_0001898 comment on investigation http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is about any of the aspects of an investigation worth noting http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/CL_0000576 monocyte http://purl.obolibrary.org/obo/CL_0011026 progenitor cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/OBI_0001900 specimen identifier assigned by specimen repository http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a specimen repository http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro http://purl.obolibrary.org/obo/CL_0000000 cell A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/OBI_0001901 specimen identifier assigned by sequencing facility http://purl.obolibrary.org/obo/OBI_0001616 specimen identifier A specimen identifier which is assigned by a sequencing facility http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000586 germ cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell The reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/OBI_0001904 sequencing service http://purl.obolibrary.org/obo/OBI_0001547 material analysis service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OBI_0001906 cancer cell line http://purl.obolibrary.org/obo/CLO_0009828 immortal cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/CL_0000623 natural killer cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OBI_0001907 immortalizing cell line transformation http://purl.obolibrary.org/obo/OBI_0600043 genetic transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/CL_0000630 supporting cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OBI_0001909 conclusion based on data http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is inferred from data. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/CL_0000648 kidney granular cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/OBI_0001912 cell freezing medium http://purl.obolibrary.org/obo/OBI_0000047 processed material A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/CL_0000650 mesangial cell http://purl.obolibrary.org/obo/CL_0000669 pericyte cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. http://purl.obolibrary.org/obo/OBI_0001930 categorical value specification http://purl.obolibrary.org/obo/OBI_0001933 value specification A value specification that is specifies one category out of a fixed number of nominal categories http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000653 podocyte http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/OBI_0001933 value specification http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that specifies a value within a classification scheme or on a quantitative scale. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/CL_0000669 pericyte cell http://purl.obolibrary.org/obo/CL_0008034 mural cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0100051 specimen http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has the specimen role. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell http://purl.obolibrary.org/obo/CL_0000034 stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/OBI_0302859 genetically modified organism http://purl.obolibrary.org/obo/OBI_0100026 organism an organism that is the output of a genetic transformation process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/CL_0000731 urothelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0302884 extraction http://purl.obolibrary.org/obo/OBI_0600014 material component separation A material separation in which a desired component of an input material is separated from the remainder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/OBI_0302893 storage http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/CL_0000763 myeloid cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer http://purl.obolibrary.org/obo/OBI_0000832 measurement device A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000765 erythroblast http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion http://purl.obolibrary.org/obo/OBI_0500026 eligibility criterion an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/OBI_0600004 human subject enrollment http://purl.obolibrary.org/obo/OBI_0001928 selection A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism http://purl.obolibrary.org/obo/OBI_0000659 specimen collection process a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/OBI_0600007 administering substance in vivo http://purl.obolibrary.org/obo/OBI_0000011 planned process A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A cell of the monocyte, granulocyte, or mast cell lineage. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/OBI_0600014 material component separation http://purl.obolibrary.org/obo/OBI_0000094 material processing a material processing in which components of an input material become segregated in space http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0600024 maintaining cell culture http://purl.obolibrary.org/obo/OBI_0000838 material maintenance A planned process with the objective to keep cells alive in a defined environment outside of an organism. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/OBI_0600036 establishing cell culture http://purl.obolibrary.org/obo/OBI_0000094 material processing a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/OBI_0600047 sequencing assay http://purl.obolibrary.org/obo/OBI_0000070 assay An assay the uses chemical or biochemical means to infer the sequence of a biomaterial http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/OBI_0666667 nucleic acid extraction http://purl.obolibrary.org/obo/OBI_0302884 extraction a material separation to recover the nucleic acid fraction of an input material http://purl.obolibrary.org/obo/CL_0000767 basophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/OBI_1110022 adaptive immune receptor http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. http://purl.obolibrary.org/obo/OGMS_0000015 clinical history http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item A series of statements representing health-relevant qualities of a patient and of a patient's family. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/CL_0000775 neutrophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/OGMS_0000031 disease http://purl.obolibrary.org/obo/BFO_0000016 disposition A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/OGMS_0000090 treatment http://purl.obolibrary.org/obo/OGMS_0000096 health care process A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/PATO_0001018 physical quality A time quality inhering in a bearer by virtue of how long the bearer has existed. http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/PATO_0000047 biological sex http://purl.obolibrary.org/obo/PATO_0001241 physical object quality 患者生理性别在特定编码体系中的代码 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/CL_0000782 myeloid dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality http://purl.obolibrary.org/obo/PATO_0001995 organismal quality An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CL_0000785 mature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/PATO_0000383 female http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/PATO_0000384 male http://purl.obolibrary.org/obo/PATO_0001894 phenotypic sex A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0000786 plasma cell http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/PATO_0001025 pressure http://purl.obolibrary.org/obo/PATO_0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses an alpha-beta T cell receptor complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/PATO_0001374 ploidy http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002420 immature T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/PATO_0001396 cellular quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A monadic quality of continuant that exists at the cellular level of organisation. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002419 mature T cell A alpha-beta T cell that has a mature phenotype. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/CL_0000805 immature single positive thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/PATO_0001548 quality of a liquid http://purl.obolibrary.org/obo/PATO_0002198 quality of a substance A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/PATO_0001995 organismal quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality that inheres in an entire organism or part of an organism. http://purl.obolibrary.org/obo/CL_0000806 DN2 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/CL_0000807 DN3 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/PR_000018263 amino acid chain An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/PR_000001004 CD4 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/CL_0000808 DN4 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/CL_0000809 double-positive, alpha-beta thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/PR_000025402 T cell receptor co-receptor CD8 http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/CL_0000814 mature NK T cell http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/UO_0000003 time unit http://purl.obolibrary.org/obo/IAO_0000003 measurement unit label A unit which is a standard measure of the dimension in which events occur in sequence. http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://purl.obolibrary.org/obo/CL_0000816 immature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/VO_0000001 vaccine http://purl.obolibrary.org/obo/OBI_0000047 processed material A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CL_0000817 precursor B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/CHEBI_36588 cyclic pseudoketone http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/DRON_00000001 clinical drug role http://purl.obolibrary.org/obo/BFO_0000023 role the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://purl.obolibrary.org/obo/OGMS_0000097 health care encounter http://purl.obolibrary.org/obo/BFO_0000015 process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/CL_0000825 pro-NK cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/OGMS_0000104 diagnostic process http://purl.obolibrary.org/obo/OGMS_0000096 health care process A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0000826 pro-B cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://purl.obolibrary.org/obo/CL_0000827 pro-T cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in an entity realized by social interactions in human society. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/CL_0000831 mast cell progenitor http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://purl.obolibrary.org/obo/OMRSE_00000033 aggregate of organizations http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://purl.obolibrary.org/obo/OMRSE_00000038 legal person role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/FOODON_03400361 agency food product type http://purl.obolibrary.org/obo/FOODON_00002403 food material An agency food product type is a class of food product defined by an agency or consortium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the myeloid lineage. http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/GO_0140014 mitotic nuclear division http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A leukocyte with a single non-segmented nucleus in the mature form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. http://purl.obolibrary.org/obo/CL_0000860 classical monocyte http://purl.obolibrary.org/obo/CL_0000576 monocyte A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization http://purl.obolibrary.org/obo/GO_0030030 cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/CL_0000862 suppressor macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage A macrophage that suppresses immune responses. http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/CL_0000863 inflammatory macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology http://purl.obolibrary.org/obo/HP_0001743 Abnormality of the spleen Any anomaly of the structure of the spleen. http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/CL_0000864 tissue-resident macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/CL_0000890 alternatively activated macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/CL_0000891 foam cell http://purl.obolibrary.org/obo/CL_0000000 cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. http://purl.obolibrary.org/obo/HP_0030962 Abnormal morphology of the great vessels http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/CL_0000893 thymocyte http://purl.obolibrary.org/obo/CL_0002420 immature T cell An immature T cell located in the thymus. http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T cell http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/NCIT_C25347 Height http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/NCIT_C25352 International Normalized Ratio http://purl.obolibrary.org/obo/CMO_0000035 blood measurement A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/CL_0000954 small pre-B-II cell http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/MONDO_0021178 injury http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell http://purl.obolibrary.org/obo/CL_0000817 precursor B cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/CL_0000980 plasmablast http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm (disease) that involves the thoracic segment of trunk. http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell http://purl.obolibrary.org/obo/CL_0000451 dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/CL_0001007 interstitial dendritic cell http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease A neoplasm (disease) that involves the uterus. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/CL_0001035 bone cell http://purl.obolibrary.org/obo/CL_0000000 cell A connective tissue cell found in bone. http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/CL_0002028 basophil mast progenitor cell http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/CL_0002039 immature NK T cell stage I http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/CL_0002040 immature NK T cell stage II http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/CL_0002041 immature NK T cell stage III http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/CL_0002042 immature NK T cell stage IV http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A neoplasm (disease) that involves the adipose tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from endoderm. http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm A benign neoplasm that involves the zone of skin. http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/CL_0002077 ecto-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from ectoderm. http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A benign neoplasm that involves the renal pelvis. http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell Epithelial cell derived from mesoderm or mesenchyme. http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease that involves the renal tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell http://purl.obolibrary.org/obo/CL_0001035 bone cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000115 endothelial cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/KTAO_0000005 AKI patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of acute kidney injury (AKI). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell An endothelial cell found in capillaries. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/KTAO_0000006 CKD patient http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human patient who has the disease of chronic kidney disease (CKD). http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CL_0002173 extraglomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease A disorder of the blood that is present at birth. http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a monocyte (monopoiesis). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/MONDO_0020579 mucositis http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease Inflammation of the mucous membranes. http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4948 HLA-DRB1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HLA-DRB1 in human. http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/CL_0002242 nucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell containing at least one nucleus. http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes histamine. http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which one entity loses energy to another entity. http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CL_4030008 pronephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/HP_0034230 Inferior crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the proximal tubule of the kidney. http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/HP_0034231 Sigmoid kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CL_0002307 brush border cell of the proximal tubule http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/HP_0034232 Unilateral lump kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/HP_0034233 Disc kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which kidneys fuse along their medial borders. http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of the nervous system. http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/HP_0034234 L-shaped kidney http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell of the embryo. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/HP_0034235 Superior crossed-fused renal ectopia http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/HP_0034239 Renal vein thrombosis http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/CL_0002371 somatic cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/HP_0034242 Abnormal fetal genitourinary system morphology http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CL_4030022 renal medullary fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal medulla interstitium. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/CL_0002419 mature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/CL_4030019 kidney connecting tubule intercalated cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/CL_4030020 kidney connecting tubule alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/CL_0002420 immature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that has not completed T cell selection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/CL_0002425 early T lineage precursor http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/CL_4030021 kidney connecting tubule beta-intercalated cell http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/CL_4030025 renal cortical fibroblast http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast A fibroblast that is located in the renal cortical interstitium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/CL_4030031 interstitial cell http://purl.obolibrary.org/obo/CL_0000000 cell Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone http://purl.obolibrary.org/obo/CHEBI_50858 corticosteroid Any of a class of steroid hormones that are produced in the adrenal cortex. http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/CL_0002494 cardiocyte http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell located in the heart, including both muscle and non muscle cells. http://purl.obolibrary.org/obo/CHEBI_51270 tetracenes http://purl.obolibrary.org/obo/CHEBI_51269 acenes Compounds containing a tetracene skeleton. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/CHEBI_64708 one-carbon compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity An organic molecular entity containing a single carbon atom (C1). http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell An epithelial cell of the kidney. http://purl.obolibrary.org/obo/CHEBI_75772 Saccharomyces cerevisiae metabolite http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/CL_0002519 interrenal epithelial cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/CL_0002522 renal filtration cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/CHEBI_15339 acceptor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/CL_0002523 mesonephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/CHEBI_16134 ammonia http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. http://purl.obolibrary.org/obo/CL_0002525 metanephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/CL_0002543 vein endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the vein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/CL_0002546 embryonic blood vessel endothelial progenitor cell http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CHEBI_16842 formaldehyde http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity An aldehyde resulting from the formal oxidation of methanol. http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/CL_0002573 Schwann cell http://purl.obolibrary.org/obo/CL_0000125 glial cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CHEBI_17891 donor http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/CL_0002584 renal cortical epithelial cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell An epithelial cell of the kidney cortex. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a cortex of kidney. http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/CL_0005009 renal principal cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. http://purl.obolibrary.org/obo/CHEBI_18154 polysaccharide http://purl.obolibrary.org/obo/CHEBI_167559 glycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://purl.obolibrary.org/obo/CHEBI_18248 iron atom http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom An iron group element atom that has atomic number 26. http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron A cuboidal epithelial cell of the kidney that regulates acid/base balance. http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/CHEBI_23888 drug http://purl.obolibrary.org/obo/CHEBI_52217 pharmaceutical Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. http://purl.obolibrary.org/obo/CL_0007001 skeletogenic cell http://purl.obolibrary.org/obo/CL_0000000 cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/CHEBI_24433 group http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A defined linked collection of atoms or a single atom within a molecular entity. http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/CL_0007004 premigratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CL_0008000 non-striated muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/CHEBI_24621 hormone http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/CHEBI_26188 polyketide http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell A muscle cell that is part of some visceral muscle. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/CHEBI_26348 prosthetic group http://purl.obolibrary.org/obo/CHEBI_23357 cofactor A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/CL_1000412 endothelial cell of arteriole http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the arteriole. http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient http://purl.obolibrary.org/obo/CHEBI_33284 nutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CL_1000413 endothelial cell of artery http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell A blood vessel endothelial cell that is part of an arterial endothelium. http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/CHEBI_27207 univalent carboacyl group http://purl.obolibrary.org/obo/CHEBI_37838 carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of the nephron. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell An epithelial cell that is part of the glomerular capsule. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/CHEBI_28616 carbamic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CL_1000453 epithelial cell of intermediate tubule http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell An epithelial cell that is part of the intermediate tubule. http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/CHEBI_33822 organic hydroxy compound A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/CHEBI_32600 tetracene http://purl.obolibrary.org/obo/CHEBI_35297 acene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell An epithelial cell that is part of the collecting duct of renal tubule. http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell An epithelial cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CHEBI_33252 atomic nucleus http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/CL_1000497 kidney cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of a kidney. http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/CHEBI_33284 nutrient http://purl.obolibrary.org/obo/CHEBI_78295 food component A nutrient is a food component that an organism uses to survive and grow. http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of kidney interstitium. http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal medulla. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/CHEBI_33696 nucleic acid http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal pelvis. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CL_1000546 kidney medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell An epithelial cell that is part of a renal medulla collecting duct. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid A carboxylic acid containing one or more amino groups. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/CL_1000547 kidney inner medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell An epithelial cell that is part of some inner medullary collecting duct. http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/CHEBI_35107 azane http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. http://purl.obolibrary.org/obo/CL_1000548 kidney outer medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell An epithelial cell that is part of an outer medullary collecting duct. http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/CL_1000549 kidney cortex collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://purl.obolibrary.org/obo/CL_1000597 papillary tips cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell A cell that is part of a tip of a renal papilla. http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/CL_1000698 kidney resident macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A tissue-resident macrophage that is part of some kidney. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/CHEBI_35820 antiprotozoal drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug Any antimicrobial drug which is used to treat or prevent protozoal infections. http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CHEBI_36080 protein http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/CL_1000716 kidney outer medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/CL_1000717 kidney outer medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/CHEBI_37527 acid http://purl.obolibrary.org/obo/CHEBI_51086 chemical role An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/CL_1000742 glomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A mesangial cell located among the glomerular capillaries in a renal corpuscle. http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/CHEBI_48001 protein synthesis inhibitor http://purl.obolibrary.org/obo/CHEBI_76932 pathway inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell An endothelial cell that is part of some peritubular capillary. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. http://purl.obolibrary.org/obo/CHEBI_50910 neurotoxin http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A poison that interferes with the functions of the nervous system. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/CL_1001107 kidney loop of Henle thin ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. http://purl.obolibrary.org/obo/CHEBI_51086 chemical role http://purl.obolibrary.org/obo/CHEBI_50906 role A role played by the molecular entity or part thereof within a chemical context. http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CHEBI_59740 nucleophilic reagent http://purl.obolibrary.org/obo/CHEBI_39144 Lewis base A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/CL_1001108 kidney loop of Henle medullary thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. http://purl.obolibrary.org/obo/CHEBI_60242 monovalent inorganic cation http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/CHEBI_60466 peptide zwitterion http://purl.obolibrary.org/obo/CHEBI_27369 zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/CL_1001109 kidney loop of Henle cortical thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/CHEBI_63299 carbohydrate derivative http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta ascending limb. http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a collecting duct of renal tubule. http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta descending limb. http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A pericyte cell located in the kidney interstitium. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CHEBI_77941 EC 3.5.1.4 (amidase) inhibitor http://purl.obolibrary.org/obo/CHEBI_76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/HP_0000093 Proteinuria http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level Increased levels of protein in the urine. http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/CHEBI_79388 divalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of two. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/HP_0000252 Microcephaly http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/CHEBI_29340 hydridonitrate(2-) http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride A divalent inorganic anion resulting from the removal of two protons from ammonia. http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head An abnormality of the face. http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CHEBI_24433 group Any substituent group which does not contain carbon. http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality A decreased magnitude of the sensory perception of sound. http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_33658 arene http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon Any monocyclic or polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/CHEBI_50313 onium cation http://purl.obolibrary.org/obo/CHEBI_50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. http://purl.obolibrary.org/obo/HP_0000508 Ptosis http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/HP_0000526 Aniridia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor http://purl.obolibrary.org/obo/CHEBI_23924 enzyme inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/HP_0000554 Uveitis http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye Inflammation of one or all portions of the uveal tract. http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. http://purl.obolibrary.org/obo/CL_0000001 primary cultured cell http://purl.obolibrary.org/obo/CL_0000010 cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/CL_0000007 early embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the nervous system. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/CL_0000010 cultured cell http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro A cell in vitro that is or has been maintained or propagated as part of a cell culture. http://purl.obolibrary.org/obo/HP_0000790 Hematuria http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system An abnormality of the skeletal system. http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/HP_0001396 Cholestasis Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/CL_0000034 stem cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/HP_0000964 Eczema http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell committed to the erythroid lineage. http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/CL_0000039 germ line cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the pigmentation of the skin. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/CL_0000040 monoblast http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A stem cell that can give rise to multiple lineages of cells. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/CL_0000049 common myeloid progenitor http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/HP_0001276 Hypertonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/CL_0000050 megakaryocyte-erythroid progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology Reduced strength of muscles. http://purl.obolibrary.org/obo/CL_0000051 common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell A stem cell from which all cells of the body can form. http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology Inflammation of a joint. http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell with a limited number of potential fates. http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/CL_0000056 myoblast http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/CL_0000057 fibroblast http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0004324 Increased body weight Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/CL_0000064 ciliated cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that has a filiform extrusion of the cell surface. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/CL_0000067 ciliated epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that has a cilia. http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/CL_0000068 duct epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell that is part of a duct. http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0001997 Gout http://purl.obolibrary.org/obo/HP_0001369 Arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree An endothelial cell that lines the vasculature. http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/HP_0002094 Dyspnea http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality Difficult or labored breathing. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/HP_0002099 Asthma http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0002239 Gastrointestinal hemorrhage http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/HP_0002329 Drowsiness http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Excessive daytime sleepiness. http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/CL_0000081 blood cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell found predominately in the blood. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/HP_0002633 Vasculitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology Inflammation of blood vessel. http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/CL_0000083 epithelial cell of pancreas http://purl.obolibrary.org/obo/CL_0002371 somatic cell An epithelial cell of the pancreas. http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/CL_0000084 T cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes Enlargment (swelling) of a lymph node. http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/CL_0000092 osteoclast http://purl.obolibrary.org/obo/CL_0001035 bone cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/CL_0000094 granulocyte http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A leukocyte with abundant granules in the cytoplasm. http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/HP_0012531 Pain Joint pain. http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil http://purl.obolibrary.org/obo/CL_0000775 neutrophil A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/CL_0000097 mast cell http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/CL_0000113 mononuclear phagocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A vertebrate phagocyte with a single nucleus. http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/HP_0003674 Onset http://purl.obolibrary.org/obo/HP_0031797 Clinical course The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/CL_0000115 endothelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://purl.obolibrary.org/obo/CL_0000133 neurectodermal cell http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell Ectoderm destined to be nervous tissue. http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/CL_0000134 mesenchymal stem cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/HP_0100512 Low levels of vitamin D http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/CL_0000135 fibrocyte http://purl.obolibrary.org/obo/CL_0000499 stromal cell An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/CL_0000150 glandular epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that specializes in controlled release of one or more substances. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CL_0000163 endocrine cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/CL_0000164 enteroendocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/CL_0000183 contractile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to shorten. http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/CL_0000186 myofibroblast cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/CL_0000187 muscle cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/CL_0000192 smooth muscle cell http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://purl.obolibrary.org/obo/CL_0000211 electrically active cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose function is determined by the generation or the reception of an electric signal. http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://purl.obolibrary.org/obo/CL_0000213 lining cell http://purl.obolibrary.org/obo/CL_0000215 barrier cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CL_0000214 synovial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell A cell located in the synovial joint. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/CL_0000215 barrier cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell whose primary function is to prevent the transport of stuff across compartments. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that moves by its own activities. http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/CL_0000221 ectodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the outer of the three germ layers of the embryo. http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that detects light. http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the middle germ layer of the embryo. http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ the gonad of a female organism which contains germ cells http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/CL_0000223 endodermal cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_0000225 anucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that lacks a nucleus. http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Functional system which consists of structures involved in respiration. http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/CL_0000226 single nucleate cell http://purl.obolibrary.org/obo/CL_0002242 nucleate cell A cell with a single nucleus. http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/CL_0000232 erythrocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/CL_0000233 platelet http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/CL_0000234 phagocyte http://purl.obolibrary.org/obo/CL_0000473 defensive cell Any cell capable of ingesting particulate matter via phagocytosis. http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/CL_0000235 macrophage http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/CL_0000236 B cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is capable of B cell mediated immunity. http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/CL_0000313 serous secreting cell http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/CL_0000325 stuff accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that is specialised to accumulate a particular substance(s). http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. http://purl.obolibrary.org/obo/CL_0000335 mesenchyme condensation cell http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. http://purl.obolibrary.org/obo/CL_0000352 epiblast cell http://purl.obolibrary.org/obo/CL_0000052 totipotent stem cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell A smooth muscle cell associated with the vasculature. http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of skeleton which includes upper and lower jaw skeletons. http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/CL_0000365 animal zygote http://purl.obolibrary.org/obo/CL_0010017 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/CL_0000393 electrically responsive cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell whose function is determined by its response to an electric signal. http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/CL_0000404 electrically signaling cell http://purl.obolibrary.org/obo/CL_0000211 electrically active cell A cell that initiates an electrical signal and passes that signal to another cell. http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel Any of the smallest blood vessels connecting arterioles with venules. http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/CL_0000424 excretory cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://purl.obolibrary.org/obo/CL_0000451 dendritic cell http://purl.obolibrary.org/obo/CL_0000145 professional antigen presenting cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Respiration organ that develops as an outpocketing of the esophagus. http://purl.obolibrary.org/obo/CL_0000458 serotonin secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/CL_0000473 defensive cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to protect the organism. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/CL_0000499 stromal cell http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/CL_0000514 smooth muscle myoblast http://purl.obolibrary.org/obo/CL_0000056 myoblast A precursor cell destined to differentiate into smooth muscle myocytes. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://purl.obolibrary.org/obo/UBERON_0002110 gall bladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera An organ that aids digestion and stores bile produced by the liver[WP]. http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/CL_0000518 phagocyte (sensu Vertebrata) http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell A phagocyte in vertebrates that is able to phagocytosis. http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/CL_0002319 neural cell The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/CL_0000547 proerythroblast http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CL_0000549 basophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CL_0000550 polychromatophilic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CL_0000552 orthochromatic erythroblast http://purl.obolibrary.org/obo/CL_0000765 erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure An organ involved in reproduction. http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/CL_0000558 reticulocyte http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ A female organ involved in reproduction http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/CL_0000559 promonocyte http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/CL_0000566 angioblastic mesenchymal cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A mesenchymal stem cell capable of developing into blood vessel endothelium. http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/CL_0000576 monocyte http://purl.obolibrary.org/obo/CL_0011026 progenitor cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Initial section of the oviduct through which the ova pass from the ovary to the uterus http://purl.obolibrary.org/obo/CL_0000578 experimentally modified cell in vitro http://purl.obolibrary.org/obo/CL_0000000 cell A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/CL_0000586 germ cell http://purl.obolibrary.org/obo/CL_0000039 germ line cell The reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/CL_0000623 natural killer cell http://purl.obolibrary.org/obo/CL_0001067 group 1 innate lymphoid cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0002394 bile duct A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/CL_0000630 supporting cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell whose primary function is to support other cell types. http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/CL_0000648 kidney granular cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is part of a immune system [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The part of the digestive system that excludes the hepatobiliary system. http://purl.obolibrary.org/obo/CL_0000650 mesangial cell http://purl.obolibrary.org/obo/CL_0000669 pericyte cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CL_0000653 podocyte http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/CL_0000669 pericyte cell http://purl.obolibrary.org/obo/CL_0008034 mural cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument http://purl.obolibrary.org/obo/UBERON_0002049 vasculature The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/CL_0000680 muscle precursor cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-terminally differentiated cell that is capable of developing into a muscle cell. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/OGG_0000000001 genome http://purl.obolibrary.org/obo/BFO_0000040 material entity A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell http://purl.obolibrary.org/obo/CL_0000034 stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CL_0000731 urothelial cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. http://purl.obolibrary.org/obo/OGG_0000000002 gene http://purl.obolibrary.org/obo/BFO_0000040 material entity A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/CL_0002242 nucleate cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/CL_0000763 myeloid cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/OGG_0000000010 protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/CL_0000764 erythroid lineage cell http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/CL_0000765 erythroblast http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/OGG_0000000024 ncRNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/CL_0000766 myeloid leukocyte http://purl.obolibrary.org/obo/CL_0000763 myeloid cell A cell of the monocyte, granulocyte, or mast cell lineage. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/OGG_0000000027 other gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/CL_0000767 basophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Bacteria http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria The genome of an organism of Proteobacteria http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/CL_0000775 neutrophil http://purl.obolibrary.org/obo/CL_0000094 granulocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/CL_0000782 myeloid dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A dendritic cell of the myeloid lineage. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/CL_0000785 mature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Eukaryota http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/OGG_1000009606 genome of Homo sapiens http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota The genome of an organism of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/CL_0000786 plasma cell http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_1000208964 genome of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria The genome of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/CL_0000789 alpha-beta T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses an alpha-beta T cell receptor complex. http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Bacteria http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002420 immature T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria A gene of an organism of Proteobacteria http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell http://purl.obolibrary.org/obo/CL_0002419 mature T cell A alpha-beta T cell that has a mature phenotype. http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/CL_0000805 immature single positive thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Eukaryota http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/CL_0000806 DN2 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota A gene of an organism of Homo sapiens http://purl.obolibrary.org/obo/CL_0000807 DN3 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria A gene of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0000808 DN4 thymocyte http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a protein-coding gene disposition http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/CL_0000809 double-positive, alpha-beta thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/CL_0000814 mature NK T cell http://purl.obolibrary.org/obo/CL_0000791 mature alpha-beta T cell A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens A gene of Homo sapiens that has a ncRNA gene disposition http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/CL_0000816 immature B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0000817 precursor B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive A precursor B cell is a B cell with the phenotype CD10-positive. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/CL_0000818 transitional stage B cell http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/CL_0000825 pro-NK cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/RO_0002310 exposure event or process http://purl.obolibrary.org/obo/BFO_0000015 process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/CL_0000826 pro-B cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CL_0000827 pro-T cell http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/CL_0000831 mast cell progenitor http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/CL_0000838 lymphoid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the lymphoid lineage. http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell restricted to the myeloid lineage. http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell http://purl.obolibrary.org/obo/CL_0000738 leukocyte A leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/CL_0000860 classical monocyte http://purl.obolibrary.org/obo/CL_0000576 monocyte A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/MONDO_0011885 tubulointerstitial nephritis and uveitis syndrome http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/CL_0000862 suppressor macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage A macrophage that suppresses immune responses. http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://purl.obolibrary.org/obo/CL_0000863 inflammatory macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CL_0000864 tissue-resident macrophage http://purl.obolibrary.org/obo/CL_0000235 macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/CL_0000890 alternatively activated macrophage http://purl.obolibrary.org/obo/CL_0000861 elicited macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/CL_0000891 foam cell http://purl.obolibrary.org/obo/CL_0000000 cell A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/CL_0000893 thymocyte http://purl.obolibrary.org/obo/CL_0002420 immature T cell An immature T cell located in the thymus. http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_0000894 DN1 thymic pro-T cell http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell http://purl.obolibrary.org/obo/CL_0000790 immature alpha-beta T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. http://purl.obolibrary.org/obo/CL_0000954 small pre-B-II cell http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/CL_0000955 pre-B-II cell http://purl.obolibrary.org/obo/CL_0000817 precursor B cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/CL_0000980 plasmablast http://purl.obolibrary.org/obo/CL_0000946 antibody secreting cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of a hematopoietic lineage. http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell http://purl.obolibrary.org/obo/CL_0000451 dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/CL_0001007 interstitial dendritic cell http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. http://purl.obolibrary.org/obo/CL_0001021 CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. http://purl.obolibrary.org/obo/CL_0001024 CD34-positive, CD38-negative hematopoietic stem cell http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CL_0001026 CD34-positive, CD38-positive common myeloid progenitor http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/CL_0001027 CD7-negative lymphoid progenitor cell http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CL_0001035 bone cell http://purl.obolibrary.org/obo/CL_0000000 cell A connective tissue cell found in bone. http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/CL_0001059 common myeloid progenitor, CD34-positive http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0002009 macrophage dendritic cell progenitor http://purl.obolibrary.org/obo/CL_0011026 progenitor cell A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/CL_0002028 basophil mast progenitor cell http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. http://purl.obolibrary.org/obo/HP_0031684 Renal artery atherosclerosis http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology An atherosclerotic lesion located in the renal artery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/CL_0002039 immature NK T cell stage I http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CL_0002040 immature NK T cell stage II http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-negative, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection http://purl.obolibrary.org/obo/HP_0032169 Severe infection An unusually severe viral infection. http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/CL_0002041 immature NK T cell stage III http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/CL_0002042 immature NK T cell stage IV http://purl.obolibrary.org/obo/CL_0000914 immature NK T cell A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/OBI_0002460 defined population inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/MONDO_0020639 monosomy http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CL_0002043 CD34-positive, CD38-negative multipotent progenitor cell http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from endoderm. http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease or disorder that involves the retroperitoneal space. http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CL_0002077 ecto-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell An epithelial cell derived from ectoderm. http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/OPMI_0000071 January http://purl.obolibrary.org/obo/OPMI_0000070 month of year The first month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/OPMI_0000072 February http://purl.obolibrary.org/obo/OPMI_0000070 month of year The second month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell Epithelial cell derived from mesoderm or mesenchyme. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/OPMI_0000073 March http://purl.obolibrary.org/obo/OPMI_0000070 month of year The third month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell http://purl.obolibrary.org/obo/CL_0001035 bone cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. http://purl.obolibrary.org/obo/OPMI_0000074 April http://purl.obolibrary.org/obo/OPMI_0000070 month of year The4th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/CL_0002139 endothelial cell of vascular tree http://purl.obolibrary.org/obo/CL_0000115 endothelial cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/OPMI_0000075 May http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 5th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell An endothelial cell found in capillaries. http://purl.obolibrary.org/obo/OPMI_0000076 June http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 6th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/OPMI_0000077 July http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 7th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/OPMI_0000078 August http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 8th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0002173 extraglomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0002188 glomerular endothelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/OPMI_0000079 September http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 9th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/OPMI_0000080 October http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 10th month of the year in the Gregorian calendar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0002191 granulocytopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a granulocyte. http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/OPMI_0000081 November http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 11th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0002194 monopoietic cell http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell A cell involved in the formation of a monocyte (monopoiesis). http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/CL_0002201 renal beta-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0002242 nucleate cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell containing at least one nucleus. http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/CL_0002274 histamine secreting cell http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell A cell type that secretes histamine. http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus http://purl.obolibrary.org/obo/CL_0002076 endo-epithelial cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/OPMI_0000082 December http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 12th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/OPMI_0000083 day of week http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A day of a calendar week that includes covers 24 hours each day. http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell An epithelial cell of the proximal tubule of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/OPMI_0000084 Monday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The first day of the week. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CL_0002307 brush border cell of the proximal tubule http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/OPMI_0000085 Tuesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The second day of the week. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of the nervous system. http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000086 Wednesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The third day of the week. http://purl.obolibrary.org/obo/CL_0002320 connective tissue cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) http://purl.obolibrary.org/obo/CL_0000548 animal cell A cell of the embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/OPMI_0000087 Thursday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fourth day of the week. http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/CL_0002371 somatic cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). http://purl.obolibrary.org/obo/OPMI_0000088 Friday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fifth day of the week. http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/CL_0002419 mature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that expresses a T cell receptor complex and has completed T cell selection. http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/OPMI_0000089 Saturday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 6th day of the week. http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/CL_0002420 immature T cell http://purl.obolibrary.org/obo/CL_0000084 T cell A T cell that has not completed T cell selection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/OPMI_0000090 Sunday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 7th day of the week. http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/CL_0002425 early T lineage precursor http://purl.obolibrary.org/obo/CL_0000827 pro-T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/OPMI_0000092 birthday http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time the anniversary of the birth of a person http://purl.obolibrary.org/obo/CL_0002465 CD11b-positive dendritic cell http://purl.obolibrary.org/obo/CL_0000990 conventional dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/CL_0002489 double negative thymocyte http://purl.obolibrary.org/obo/CL_0000893 thymocyte A thymocyte that lacks expression of CD4 and CD8. http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/CL_0002494 cardiocyte http://purl.obolibrary.org/obo/CL_0002371 somatic cell A cell located in the heart, including both muscle and non muscle cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell An epithelial cell of the kidney. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/CL_0002519 interrenal epithelial cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/CL_0002522 renal filtration cell http://purl.obolibrary.org/obo/CL_0000424 excretory cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000435 child human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/CL_0002523 mesonephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/CL_0002525 metanephric podocyte http://purl.obolibrary.org/obo/CL_0000653 podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/CL_0002543 vein endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the vein. http://purl.obolibrary.org/obo/CL_0002546 embryonic blood vessel endothelial progenitor cell http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell An endothelial progenitor cell that participates in angiogenesis during development. http://purl.obolibrary.org/obo/CL_0002573 Schwann cell http://purl.obolibrary.org/obo/CL_0000125 glial cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Any abnormal sttructure of the glomerular basement membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0002584 renal cortical epithelial cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell An epithelial cell of the kidney cortex. http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a cortex of kidney. http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/CL_0005009 renal principal cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron A cuboidal epithelial cell of the kidney that regulates acid/base balance. http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis Any deviation from the normal concentration of a metabolite in urine. http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, http://purl.obolibrary.org/obo/CL_0005011 renal alpha-intercalated cell http://purl.obolibrary.org/obo/CL_0005010 renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/CL_0007001 skeletogenic cell http://purl.obolibrary.org/obo/CL_0000000 cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/HP_0033861 Multilamellation of cortical peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/CL_0007004 premigratory neural crest cell http://purl.obolibrary.org/obo/CL_0011012 neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/HP_0033862 Cortical peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/CL_0008000 non-striated muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/CL_0008001 hematopoietic precursor cell http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/HP_0033865 Medullary peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/CL_0008007 visceral muscle cell http://purl.obolibrary.org/obo/CL_0000187 muscle cell A muscle cell that is part of some visceral muscle. http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033866 Medullary peritubular capillary erythrocyte congestion http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/CL_1000412 endothelial cell of arteriole http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell An endothelial cell that is part of the arteriole. http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/HP_0033867 Multilamellation of medullary peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/CL_1000413 endothelial cell of artery http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell A blood vessel endothelial cell that is part of an arterial endothelium. http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of the nephron. http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/HP_0033869 Medullary peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/HP_0033870 Medullary peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell An epithelial cell that is part of the glomerular capsule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033871 Medullary peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/HP_0033872 Cortical peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell http://purl.obolibrary.org/obo/CL_1000450 epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. http://purl.obolibrary.org/obo/HP_0033873 Cortical peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033874 Cortical peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/CL_1000453 epithelial cell of intermediate tubule http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell An epithelial cell that is part of the intermediate tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell An epithelial cell that is part of the collecting duct of renal tubule. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell An epithelial cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/HP_0033876 Arcuate vein lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/HP_0033877 Arcuate vein intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CL_1000497 kidney cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is part of a kidney. http://purl.obolibrary.org/obo/HP_0033878 Arcuate vein lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of kidney interstitium. http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal medulla. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/HP_0033880 Arcuate vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a renal pelvis. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a nephron tubule. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/HP_0033881 Arcuate vein intimal/medial myxomatous degeneration http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/HP_0033882 Arcuate vein intima/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/CL_1000546 kidney medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell An epithelial cell that is part of a renal medulla collecting duct. http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CL_1000547 kidney inner medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell An epithelial cell that is part of some inner medullary collecting duct. http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. http://purl.obolibrary.org/obo/CL_1000548 kidney outer medulla collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell An epithelial cell that is part of an outer medullary collecting duct. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/CL_1000549 kidney cortex collecting duct epithelial cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/CL_1000597 papillary tips cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell A cell that is part of a tip of a renal papilla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033885 Cortical radial artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/CL_1000698 kidney resident macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A tissue-resident macrophage that is part of some kidney. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/HP_0033887 Cortical radial artery intimal/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/CL_1000716 kidney outer medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/CL_1000717 kidney outer medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/CL_1000742 glomerular mesangial cell http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte A mesangial cell located among the glomerular capillaries in a renal corpuscle. http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell An endothelial cell that is part of some peritubular capillary. http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/HP_0033891 Renal arteriolar lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. http://purl.obolibrary.org/obo/CL_1001107 kidney loop of Henle thin ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001108 kidney loop of Henle medullary thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/HP_0033893 Renal arteriolar lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/CL_1001109 kidney loop of Henle cortical thick ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001106 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/CL_1001111 kidney loop of Henle thin descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. http://purl.obolibrary.org/obo/HP_0033894 Renal arteriolar intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta ascending limb. http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CL_1000497 kidney cell A cell that is part of a collecting duct of renal tubule. http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0033897 Arcuate artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell A cell that is part of some vasa recta descending limb. http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/HP_0033898 Arcuate artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/CL_1001318 renal interstitial pericyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell A pericyte cell located in the kidney interstitium. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/HP_0033899 Arcuate artery lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033900 Renal arteriole intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/CL_1001610 bone marrow hematopoietic cell http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033902 Arcuate artery endotheliosis http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033904 Renal arteriole intima/media hyalinosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033905 Arcuate artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/HP_0000093 Proteinuria http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level Increased levels of protein in the urine. http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus http://purl.obolibrary.org/obo/HP_0002921 Abnormality of the cerebrospinal fluid Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033907 Renal arteriole intima/media arteriolosclerosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0000252 Microcephaly http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference Head circumference below 2 standard deviations below the mean for age and gender. http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head An abnormality of the face. http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality A decreased magnitude of the sensory perception of sound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/HP_0000508 Ptosis http://purl.obolibrary.org/obo/HP_0012373 Abnormal eye physiology The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0000526 Aniridia http://purl.obolibrary.org/obo/HP_0008053 Aplasia/Hypoplasia of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0000554 Uveitis http://purl.obolibrary.org/obo/HP_0100533 Inflammatory abnormality of the eye Inflammation of one or all portions of the uveal tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy http://purl.obolibrary.org/obo/HP_0000479 Abnormal retinal morphology Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/HP_0000618 Blindness http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An abnormality of the nervous system. http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0000790 Hematuria http://purl.obolibrary.org/obo/HP_0012614 Abnormal urine cytology The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system An abnormality of the skeletal system. http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000952 Jaundice http://purl.obolibrary.org/obo/HP_0001396 Cholestasis Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/HP_0000964 Eczema http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/HP_0000969 Edema http://purl.obolibrary.org/obo/HP_0011032 Abnormality of fluid regulation An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/HP_0001000 Abnormality of skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormality of skin morphology An abnormality of the pigmentation of the skin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/HP_0001250 Seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/HP_0001276 Hypertonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology Reduced strength of muscles. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/HP_0001369 Arthritis http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology Inflammation of a joint. http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly http://purl.obolibrary.org/obo/HP_0025408 Abnormal spleen morphology Simultaneous enlargement of the liver and spleen. http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0001513 Obesity http://purl.obolibrary.org/obo/HP_0004324 Increased body weight Accumulation of substantial excess body fat. http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology The presence of a stenosis (narrowing) of the aortic valve. http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0000969 Edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001876 Pancytopenia http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0001997 Gout http://purl.obolibrary.org/obo/HP_0001369 Arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/HP_0002094 Dyspnea http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality Difficult or labored breathing. http://purl.obolibrary.org/obo/HP_0002099 Asthma http://purl.obolibrary.org/obo/HP_0100326 Immunologic hypersensitivity Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia http://purl.obolibrary.org/obo/HP_0010932 Abnormal circulating nucleobase concentration An abnormally high level of uric acid in the blood. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/HP_0002239 Gastrointestinal hemorrhage http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage Hemorrhage affecting the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/HP_0002329 Drowsiness http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology Excessive daytime sleepiness. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/HP_0002633 Vasculitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology Inflammation of blood vessel. http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy http://purl.obolibrary.org/obo/HP_0002733 Abnormality of the lymph nodes Enlargment (swelling) of a lymph node. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0002721 Immunodeficiency http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/HP_0002829 Arthralgia http://purl.obolibrary.org/obo/HP_0012531 Pain Joint pain. http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology The occurrence of an immune reaction against the organism's own cells or tissues. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration An increased concentration of tyrosine in the blood. http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level An increased concentration of an amino acid in the urine. http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/HP_0003674 Onset http://purl.obolibrary.org/obo/HP_0031797 Clinical course The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/HP_0011029 Internal hemorrhage http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation The presence of hemorrhage within the body. http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/HP_0100512 Low levels of vitamin D http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is capable of transducing sensory stimulus to the nervous system. http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A fluid that is composed of blood plasma and erythrocytes. http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Transparent part of camera-type eye that helps to refract light to be focused on the retina. http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that detects light. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with reproduction. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ the gonad of a female organism which contains germ cells http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Functional system which consists of structures involved in respiration. http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure Subdivision of skeleton which includes upper and lower jaw skeletons. http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel Any of the smallest blood vessels connecting arterioles with venules. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Respiration organ that develops as an outpocketing of the esophagus. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/UBERON_0002110 gall bladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera An organ that aids digestion and stores bile produced by the liver[WP]. http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that consists of the muscular and skeletal systems. http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure An organ involved in reproduction. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ A female organ involved in reproduction http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Initial section of the oviduct through which the ova pass from the ovary to the uterus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the heart and blood vessels. http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0002394 bile duct A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that is part of a immune system [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The part of the digestive system that excludes the hepatobiliary system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument http://purl.obolibrary.org/obo/UBERON_0002049 vasculature The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/OGG_0000000001 genome http://purl.obolibrary.org/obo/BFO_0000040 material entity A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_0000000002 gene http://purl.obolibrary.org/obo/BFO_0000040 material entity A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/OGG_0000000010 protein-coding gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/OGG_0000000024 ncRNA gene disposition http://purl.obolibrary.org/obo/OGG_0000000011 RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/OGG_0000000027 other gene disposition http://purl.obolibrary.org/obo/OGG_0000000003 gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Bacteria http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria http://purl.obolibrary.org/obo/OGG_1000000002 genome of Bacteria The genome of an organism of Proteobacteria http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_1000001224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000001 genome The genome of an organism of Eukaryota http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://purl.obolibrary.org/obo/OGG_1000009606 genome of Homo sapiens http://purl.obolibrary.org/obo/OGG_1000002759 genome of Eukaryota The genome of an organism of Homo sapiens http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/OGG_1000208964 genome of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_1000001236 genome of Gammaproteobacteria The genome of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Bacteria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria http://purl.obolibrary.org/obo/OGG_2000000002 gene of Bacteria A gene of an organism of Proteobacteria http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_2000001224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota http://purl.obolibrary.org/obo/OGG_0000000002 gene A gene of an organism of Eukaryota http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000002759 gene of Eukaryota A gene of an organism of Homo sapiens http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000001236 gene of Gammaproteobacteria A gene of an organism of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a protein-coding gene disposition http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_2000208964 gene of Pseudomonas aeruginosa PAO1 A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens A gene of Homo sapiens that has a ncRNA gene disposition http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/OGG_2110009606 RNA gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition http://purl.obolibrary.org/obo/OGG_2000009606 gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/RO_0002310 exposure event or process http://purl.obolibrary.org/obo/BFO_0000015 process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/MONDO_0018078 soft tissue sarcoma http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/MONDO_0011379 medullary cystic kidney disease 2 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/MONDO_0011885 tubulointerstitial nephritis and uveitis syndrome http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/MONDO_0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/MONDO_0012546 nephrotic syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/MONDO_0012575 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/MONDO_0013199 tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0013255 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0013323 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0020101 constitutional hemolytic anemia due to membrane defect http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Any functional abnormality of a cardiac valve. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://purl.obolibrary.org/obo/HP_0031684 Renal artery atherosclerosis http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology An atherosclerotic lesion located in the renal artery. http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection http://purl.obolibrary.org/obo/HP_0032169 Severe infection An unusually severe viral infection. http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection http://purl.obolibrary.org/obo/HP_0031691 Severe viral infection An unusually severe adenovirus infection. http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/OBI_0002460 defined population inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/MONDO_0020639 monosomy http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder A disease or disorder that involves the retroperitoneal space. http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020607 Liddle syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/OPMI_0000071 January http://purl.obolibrary.org/obo/OPMI_0000070 month of year The first month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://purl.obolibrary.org/obo/OPMI_0000072 February http://purl.obolibrary.org/obo/OPMI_0000070 month of year The second month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/OPMI_0000073 March http://purl.obolibrary.org/obo/OPMI_0000070 month of year The third month of the year in the Gregorian calendar. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/OPMI_0000074 April http://purl.obolibrary.org/obo/OPMI_0000070 month of year The4th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/OPMI_0000075 May http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 5th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/OPMI_0000076 June http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 6th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/OPMI_0000077 July http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 7th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/OPMI_0000078 August http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 8th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/OPMI_0000079 September http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 9th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/OPMI_0000080 October http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 10th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/OPMI_0000081 November http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 11th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/OPMI_0000082 December http://purl.obolibrary.org/obo/OPMI_0000070 month of year The 12th month of the year in the Gregorian calendar http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000083 day of week http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A day of a calendar week that includes covers 24 hours each day. http://purl.obolibrary.org/obo/OPMI_0000084 Monday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The first day of the week. http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000085 Tuesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The second day of the week. http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/OPMI_0000086 Wednesday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The third day of the week. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/OPMI_0000087 Thursday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fourth day of the week. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/OPMI_0000088 Friday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The fifth day of the week. http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/OPMI_0000089 Saturday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 6th day of the week. http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/OPMI_0000090 Sunday http://purl.obolibrary.org/obo/OPMI_0000083 day of week The 7th day of the week. http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000092 birthday http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time the anniversary of the birth of a person http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/OPMI_0000435 child human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Any abnormal sttructure of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis Any deviation from the normal concentration of a metabolite in urine. http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://purl.obolibrary.org/obo/HP_0033861 Multilamellation of cortical peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://purl.obolibrary.org/obo/HP_0033862 Cortical peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033860 Abnormal cortical peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology http://purl.obolibrary.org/obo/HP_0033859 Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/HP_0033865 Medullary peritubular capillaritis http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/HP_0033866 Medullary peritubular capillary erythrocyte congestion http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/HP_0033867 Multilamellation of medullary peritubular capillary basement membranes http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0033864 Abnormal medullary peritubular capillary morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0033869 Medullary peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/HP_0033870 Medullary peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/HP_0033871 Medullary peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033868 Abnormal medullary peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033872 Cortical peritubular capillary lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/HP_0033873 Cortical peritubular capillary intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/HP_0033874 Cortical peritubular capillary lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033863 Abnormal cortical peritubular capillary lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/HP_0033876 Arcuate vein lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/HP_0033877 Arcuate vein intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/HP_0033878 Arcuate vein lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033875 Abnormal arcuate vein lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033853 Abnormal arcuate vein morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0033880 Arcuate vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/HP_0033881 Arcuate vein intimal/medial myxomatous degeneration http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/HP_0033882 Arcuate vein intima/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology http://purl.obolibrary.org/obo/HP_0033836 Abnormal intrarenal artery morphology Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/HP_0033885 Cortical radial artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/HP_0033887 Cortical radial artery intimal/medial amyloidosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/HP_0033891 Renal arteriolar lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/HP_0033893 Renal arteriolar lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/HP_0033894 Renal arteriolar intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033890 Abnormal renal arteriole lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology http://purl.obolibrary.org/obo/HP_0033889 Abnormal renal arteriole morphology Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/HP_0033897 Arcuate artery lumen cholesterol emboli http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0033898 Arcuate artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/HP_0033899 Arcuate artery lumen organized thrombi http://purl.obolibrary.org/obo/HP_0033896 Abnormal arcuate artery lumen morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://purl.obolibrary.org/obo/HP_0033900 Renal arteriole intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033837 Abnormal arcuate artery morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/HP_0033902 Arcuate artery endotheliosis http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033901 Abnormal arcuate artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/HP_0033904 Renal arteriole intima/media hyalinosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/HP_0033905 Arcuate artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/HP_0033907 Renal arteriole intima/media arteriolosclerosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/HP_0033908 Renal arteriole medial atrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/HP_0033909 Arcuate vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Increased thickness of middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/HP_0033910 Arcuate vein medial atrophy http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/HP_0033911 Cortical radial artery medial hypertrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0033912 Cortical radial artery medial atrophy http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/HP_0033914 Arcuate artery intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/HP_0033915 Arcuate artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0033916 Medial/intimal arcuate venosclerosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/HP_0033918 Renal arteriole medial hypertrophy http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Increased thickness of middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0033920 Renal arteriole intima/media storage material accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033895 Abnormal renal arteriole endothelium morphology Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033921 Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/HP_0033923 Renal arteriole foam cell endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/HP_0033924 Renal arteriole neutrophil endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/HP_0033925 Renal arteriole lymphocyte endoarterial hypercellularity http://purl.obolibrary.org/obo/HP_0033922 Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://purl.obolibrary.org/obo/HP_0033926 Renal arteriole intimal/medial multilamellation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033903 Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://purl.obolibrary.org/obo/HP_0033928 Arcuate artery endoarterial foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/HP_0033929 Arcuate artery endoarterial neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/HP_0033930 Arcuate artery endoarterial lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033927 Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Death of tissue in the inner or middle layer of the arcuate artery of the kidney. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://purl.obolibrary.org/obo/HP_0033932 Arcuate artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/HP_0033933 Arcuate artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033931 Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/HP_0033934 Arcuate vein intimal/medial storage material accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/HP_0033936 Cortical radial artery intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/HP_0033937 Cortical radial artery intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033935 Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/HP_0033939 Renal arteriole intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/HP_0033940 Renal arteriole intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033938 Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/HP_0033941 Granulomatous arteriolitis of the arteriolar intima/media http://purl.obolibrary.org/obo/HP_0033906 Renal intimal/medial arteriolitis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/HP_0033943 Arcuate vein medial/intimal coagulative necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/HP_0033944 Arcuate vein medial/intimal liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033942 Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/HP_0033945 Arcuate intimal/medial granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033917 Arcuate intimal/medial venulitis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/HP_0033946 Arcuate vein intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033879 Abnormal arcuate vein intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/HP_0033947 Renal arteriole intima/media crystal accumulation http://purl.obolibrary.org/obo/HP_0033892 Abnormal renal arteriole intima/media morphology Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis http://purl.obolibrary.org/obo/HP_0033886 Abnormal arcuate artery intima/media morphology Inflammation of the inner or middle layer of the arcuate arteries of the kidney. http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/HP_0033949 Arcuate artery intima/media granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033948 Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi http://purl.obolibrary.org/obo/HP_0033884 Abnormal cortical radial artery lumen morphology Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/HP_0033951 Cortical radial artery intraluminal organized thrombi http://purl.obolibrary.org/obo/HP_0033950 Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology http://purl.obolibrary.org/obo/HP_0033883 Abnormal cortical radial artery morphology Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/HP_0033953 Cortical radial artery endotheliosis http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity http://purl.obolibrary.org/obo/HP_0033952 Abnormal cortical radial artery endothelium morphology Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033954 Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/HP_0033956 Cortical radial artery lymphocyte hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/HP_0033957 Cortical radial artery neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/HP_0033958 Cortical radial artery foam cell hypercellularity http://purl.obolibrary.org/obo/HP_0033955 Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/HP_0033959 Cortical radial artery intima/media arteriosclerosis http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/HP_0033960 Cortical radial artery intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/HP_0033961 Cortical radial artery intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033888 Abnormal cortical radial artery intima/media morphology Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://purl.obolibrary.org/obo/HP_0033962 Cortical radial artery medial/intimal granulomatous arteriitis http://purl.obolibrary.org/obo/HP_0033913 Cortical radial artery medial/intimal arteriitis A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology http://purl.obolibrary.org/obo/HP_0033854 Abnormal interlobular vein morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/HP_0033964 Interlobular intima/media venosclerosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/HP_0033965 Interlobular vein intimal mucoid edema http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/HP_0033966 Interlobular vein intima/media amyloidosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://purl.obolibrary.org/obo/HP_0033968 Interlobular vein intima/media granulomatous venulitis http://purl.obolibrary.org/obo/HP_0033967 Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/HP_0033970 Interlobular vein intima/media liquefactive necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/HP_0033971 Interlobular vein intima/media coagulative necrosis http://purl.obolibrary.org/obo/HP_0033969 Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/HP_0033972 Interlobular vein medial atrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/HP_0033973 Interlobular vein medial hypertrophy http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Increased thickness of middle layer of the interlobular veins of the kidney. http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0033974 Interlobular vein intima/media multilamellation http://purl.obolibrary.org/obo/HP_0033963 Abnormal interlobular vein intima/media morphology Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/CHEBI_16670 peptide http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/CHEBI_25212 metabolite http://purl.obolibrary.org/obo/CHEBI_52206 biochemical role Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/CHEBI_26878 tertiary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent http://purl.obolibrary.org/obo/CHEBI_24432 biological role A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/CHEBI_33282 antibacterial agent http://purl.obolibrary.org/obo/CHEBI_33281 antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/CHEBI_33558 alpha-amino-acid anion http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity Any heteroorganic entity containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent http://purl.obolibrary.org/obo/CHEBI_23888 drug A substance used in the prophylaxis or therapy of infectious diseases. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_36047 antibacterial drug http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug A drug used to treat or prevent bacterial infections. http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity Any molecular entity that contains carbon. http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_50903 carcinogenic agent http://purl.obolibrary.org/obo/CHEBI_52209 aetiopathogenetic role A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/CHEBI_60027 polymer http://purl.obolibrary.org/obo/CHEBI_60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/CHEBI_75767 animal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_75771 mouse metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CHEBI_76946 fungal metabolite http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_76971 Escherichia coli metabolite http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_75763 eukaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CHEBI_76969 bacterial metabolite http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CHEBI_26188 polyketide A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms of a transition element. http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/CHEBI_35442 antiparasitic agent http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A substance used to treat or prevent parasitic infections. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/CHEBI_16541 protein polypeptide chain http://purl.obolibrary.org/obo/CHEBI_15841 polypeptide A naturally occurring polypeptide synthesized at the ribosome. http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://purl.obolibrary.org/obo/CHEBI_24261 glucocorticoid http://purl.obolibrary.org/obo/CHEBI_36699 corticosteroid hormone Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/CHEBI_28938 ammonium http://purl.obolibrary.org/obo/CHEBI_50313 onium cation An onium cation obtained by protonation of ammonia. http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/CHEBI_36080 protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/CHEBI_36043 antimicrobial drug http://purl.obolibrary.org/obo/CHEBI_35441 antiinfective agent A drug used to treat or prevent microbial infections. http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/CHEBI_37395 mucopolysaccharide http://purl.obolibrary.org/obo/CHEBI_18085 glycosaminoglycan Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/CHEBI_72813 exopolysaccharide http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/CHEBI_78295 food component http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/CHEBI_78433 refrigerant http://purl.obolibrary.org/obo/CHEBI_33232 application A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion Any inorganic anion with a valency of one. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/CHEBI_22695 base http://purl.obolibrary.org/obo/CHEBI_51086 chemical role A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent A compound consisting of carbon and hydrogen only. http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule formed by a living organism. http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_33233 fundamental particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A particle not known to have substructure. http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CHEBI_33273 polyatomic anion http://purl.obolibrary.org/obo/CHEBI_36358 polyatomic ion An anion consisting of more than one atom. http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/CHEBI_33290 food http://purl.obolibrary.org/obo/CHEBI_52211 physiological role A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_36357 polyatomic entity Any molecule that consists of a series of atoms joined together to form a ring. http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A molecule that features two fused rings. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CHEBI_35293 fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708 amino-acid residue An amino-acid residue derived from an alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_33848 polycyclic arene http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon A polycyclic aromatic hydrocarbon. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CHEBI_35297 acene http://purl.obolibrary.org/obo/CHEBI_51269 acenes A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CHEBI_36339 baryon http://purl.obolibrary.org/obo/CHEBI_36344 hadron Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle http://purl.obolibrary.org/obo/BFO_0000040 material entity A particle smaller than an atom. http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_36347 nuclear particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A nucleus or any of its constituents in any of their energy states. http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity Any organic molecular entity that is acidic and contains carbon in covalent linkage. http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CHEBI_52395 oxyketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_53309 polyanionic macromolecule http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule A polymer carrying multiple negative charges. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/CHEBI_53368 ionic macromolecule http://purl.obolibrary.org/obo/CHEBI_33839 macromolecule A macromolecule containing ionic groups. http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/GO_0004713 protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0004672 protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/GO_0004714 transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0005179 hormone activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity http://purl.obolibrary.org/obo/GO_0005179 hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/GO_0005215 transporter activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/GO_0005216 ion channel activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/GO_0005244 voltage-gated ion channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/GO_0005248 voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/GO_0005267 potassium channel activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/GO_0005342 organic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/GO_0005372 water transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/GO_0005452 inorganic anion exchanger activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0005575 cellular_component http://purl.obolibrary.org/obo/BFO_0000040 material entity A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0005576 extracellular region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/GO_0005577 fibrinogen complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/GO_0005581 collagen trimer http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/GO_0005587 collagen type IV trimer http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/GO_0005604 basement membrane http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/GO_0005615 extracellular space http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/GO_0005730 nucleolus http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0005766 primary lysosome http://purl.obolibrary.org/obo/GO_0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/GO_0005777 peroxisome http://purl.obolibrary.org/obo/GO_0042579 microbody A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/GO_0005794 Golgi apparatus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/GO_0005798 Golgi-associated vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/GO_0005874 microtubule http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/GO_0005884 actin filament http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/GO_0005902 microvillus http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/GO_0005903 brush border http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction http://purl.obolibrary.org/obo/GO_0070161 anchoring junction A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005929 cilium http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005930 axoneme http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006073 cellular glucan metabolic process http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0006163 purine nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/GO_0006164 purine nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0006323 DNA packaging http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change Any process in which DNA and associated proteins are formed into a compact, orderly structure. http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://purl.obolibrary.org/obo/GO_0006497 protein lipidation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The covalent attachment of lipid groups to an amino acid in a protein. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006505 GPI anchor metabolic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/GO_0006518 peptide metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/GO_0006643 membrane lipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006644 phospholipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0006661 phosphatidylinositol biosynthetic process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/GO_0006664 glycolipid metabolic process http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006725 cellular aromatic compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/GO_0006743 ubiquinone metabolic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/GO_0006754 ATP biosynthetic process http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0006767 water-soluble vitamin metabolic process http://purl.obolibrary.org/obo/GO_0006766 vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006807 nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://purl.obolibrary.org/obo/GO_0006810 transport http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006812 cation transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006820 anion transport http://purl.obolibrary.org/obo/GO_0006811 monoatomic ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0006821 chloride transport http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006835 dicarboxylic acid transport http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0006873 cellular ion homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/GO_0006875 cellular metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/GO_0006878 cellular copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0006884 cell volume homeostasis http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/GO_0006885 regulation of pH http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/GO_0006887 exocytosis http://purl.obolibrary.org/obo/GO_0032940 secretion by cell A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/GO_0006897 endocytosis http://purl.obolibrary.org/obo/GO_0098657 import into cell A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/GO_0006898 receptor-mediated endocytosis http://purl.obolibrary.org/obo/GO_0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/GO_0006900 vesicle budding from membrane http://purl.obolibrary.org/obo/GO_0016050 vesicle organization The evagination of a membrane, resulting in formation of a vesicle. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0006906 vesicle fusion http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion Fusion of the membrane of a transport vesicle with its target membrane. http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006928 movement of cell or subcellular component http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/GO_0006935 chemotaxis http://purl.obolibrary.org/obo/GO_0042330 taxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006936 muscle contraction http://purl.obolibrary.org/obo/GO_0003012 muscle system process A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0006996 organelle organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The directed movement of substances into, out of or within a vacuole. http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport http://purl.obolibrary.org/obo/GO_0007034 vacuolar transport The directed movement of substances into, out of or within a lysosome. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007113 endomitotic cell cycle http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/GO_0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/OAE_0003230 behavior abnormal quality http://purl.obolibrary.org/obo/PATO_0000186 behavioral quality a behavioral quality where the behavior in an organism is abnormal. http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker kidney cell type biomarker http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/KTAO_0000039 kidney biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker kidney-associated biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region temporal instant. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo person http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OBI_0100026 organism eubacteria http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGG_3000000058 ACTA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEM3 http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/OGG_3000000059 ACTA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MYMY5 http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/OGG_3000000081 ACTN4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FSGS1 http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OGG_3000000109 ADCY3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AC3 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000148 ADRA1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA1AAR http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/OGG_3000000185 AGTR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HAT1R http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/OGG_3000000229 ALDOB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDO2 http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OGG_3000000231 AKR1B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADR http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000000259 AMBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UTI http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000285 ANGPT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AGPT2 http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/OGG_3000000301 ANXA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LPC1 http://purl.obolibrary.org/obo/OGG_3000000348 APOE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LDLCQ5 http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000358 AQP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AQP-CHIP http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/OGG_3000000359 AQP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WCH-CD http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/OGG_3000000360 AQP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GIL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/OGG_3000000363 AQP6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KID http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/OGG_3000000390 RND3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens memB http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OGG_3000000552 AVPR1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens V1aR http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/OGG_3000000554 AVPR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NDI http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/OGG_3000000558 AXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JTK11 http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/OGG_3000000633 BGN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DSPG1 http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000635 BHMT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-61p http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/OGG_3000000655 BMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OP-1 http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/OGG_3000000718 C3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-S-62p http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/OGG_3000000760 CA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL-76 http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000000793 CALB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CALB http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/OGG_3000000796 CALCA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KC http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/OGG_3000000834 CASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P45 http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_3000000836 CASP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPP32B http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/OGG_3000000846 CASR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NSHPT http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/OGG_3000000864 RUNX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PEBP2aC http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGG_3000000891 CCNB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCNB http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGG_3000000911 CD1C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R7 http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/OGG_3000000913 CD1E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens R2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/OGG_3000000915 CD3D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD19 http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/OGG_3000000917 CD3G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD17 http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/OGG_3000000919 CD247 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD3Q http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/OGG_3000000920 CD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD4mut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/OGG_3000000925 CD8A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Leu2 http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/OGG_3000000926 CD8B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LYT3 http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/OGG_3000000931 MS4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LEU-16 http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/OGG_3000000941 CD80 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens B7.1 http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/OGG_3000000948 CD36 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARB3 http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/OGG_3000000952 CD38 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T10 http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/OGG_3000000959 CD40LG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCD40L http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/OGG_3000000968 CD68 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCARD1 http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000000969 CD69 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLR-3 http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000000973 CD79A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MB-1 http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/OGG_3000000983 CDK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P34CDC2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001116 CHI3L1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hCGP-39 http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001154 CISH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BACTS2 http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001164 CKS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKSHS2 http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001187 CLCNKA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hClC-Ka http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001191 CLU http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SP-40 http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/OGG_3000001230 CCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1aR http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001269 CNR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX5 http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/OGG_3000001277 COL1A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/OGG_3000001278 COL1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OI4 http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/OGG_3000001291 COL6A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OPLL http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001307 COL16A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 447AA http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/OGG_3000001359 CPA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MC-CPA http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000001365 CLDN3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RVP1 http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000001380 CR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB9 http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/OGG_3000001410 CRYAB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFM2 http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/OGG_3000001435 CSF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCSF http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/OGG_3000001436 CSF1R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M-CSF-R http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/OGG_3000001438 CSF2RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMDP4 http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000001441 CSF3R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GCSFR http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OGG_3000001462 VCAN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WGN1 http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/OGG_3000001471 CST3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ARMD11 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OGG_3000001475 CSTA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AREI http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/OGG_3000001490 CTGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOV2 http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000001522 CTSZ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTSX http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/OGG_3000001536 CYBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p91-PHOX http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/OGG_3000001580 CYP4B1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P-450HP http://purl.obolibrary.org/obo/OGG_3000001634 DCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PGS2 http://purl.obolibrary.org/obo/OGG_3000001649 DDIT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHOP10 http://purl.obolibrary.org/obo/OGG_3000001773 DNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DRNI http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/OGG_3000001776 DNASE1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB16 http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/OGG_3000001839 HBEGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DTSF http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000001843 DUSP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVH1 http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000001844 DUSP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAC-1 http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/OGG_3000001906 EDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens QME http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000001950 EGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URG http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/OGG_3000001958 EGR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZIF-268 http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/OGG_3000002168 FABP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L-FABP http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/OGG_3000002205 FCER1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FcERI http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/OGG_3000002206 MS4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGHER http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/OGG_3000002214 FCGR3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IMD20 http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/OGG_3000002215 FCGR3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCRIIIb http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000002219 FCN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FCNM http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000002294 FOXF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ACDMPV http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/OGG_3000002297 FOXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FREAC4 http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/OGG_3000002299 FOXI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFH3 http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/OGG_3000002321 FLT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VEGFR1 http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/OGG_3000002322 FLT3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FLK2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/OGG_3000002335 FN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LETS http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/OGG_3000002353 FOS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-FOS http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/OGG_3000002357 FPR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FMLP http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://purl.obolibrary.org/obo/OGG_3000002512 FTL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFTD http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/OGG_3000002537 IFI6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IFI616 http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/OGG_3000002625 GATA3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HDRS http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/OGG_3000002628 GATM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CCDS3 http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OGG_3000002702 GJA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CX40 http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OGG_3000002719 GPC3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGBS1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/OGG_3000002735 GLI1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GLI http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/OGG_3000002823 GPM6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens M6A http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/OGG_3000002877 GPX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPX-GI http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/OGG_3000002878 GPX3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GSHPx-P http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/OGG_3000002920 CXCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-2a http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/OGG_3000003001 GZMA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HFSP http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/OGG_3000003002 GZMB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CGL-1 http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/OGG_3000003003 GZMK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRYP2 http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/OGG_3000003055 HCK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p61Hck http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/OGG_3000003075 CFH http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUS http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003082 HGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HGFB http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003084 NRG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MST131 http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/OGG_3000003117 HLA-DQA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DQA http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/OGG_3000003119 HLA-DQB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IDDM1 http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/OGG_3000003122 HLA-DRA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MLRW http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/OGG_3000003123 HLA-DRB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HLA-DRB http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/OGG_3000003162 HMOX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK286B10 http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/OGG_3000003164 NR4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NUR77 http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000003291 HSD11B2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDR9C3 http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_3000003337 DNAJB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sis1 http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/OGG_3000003371 TNC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 150-225 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003383 ICAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P3.58 http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/OGG_3000003397 ID1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bHLHb24 http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/OGG_3000003429 IFI27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ISG12A http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000003479 IGF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFI http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/OGG_3000003490 IGFBP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAMSVPS http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000003491 CYR61 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IGFBP10 http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/OGG_3000003512 IGJ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens JCH http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/OGG_3000003514 IGKC http://purl.obolibrary.org/obo/OGG_2250009606 gene of Homo sapiens with other gene disposition IGKCD http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/OGG_3000003563 IL3RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hIL-3Ra http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/OGG_3000003568 IL5RA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSIL5R3 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000003569 IL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSF http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000003575 IL7R http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILRA http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OGG_3000003576 IL8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAF http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/OGG_3000003586 IL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL10A http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OGG_3000003605 IL17A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL17 http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/OGG_3000003606 IL18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL-1g http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/OGG_3000003627 CXCL10 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens mob-1 http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/OGG_3000003645 INSRR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRR http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003674 ITGA2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HPA3 http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/OGG_3000003678 ITGA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VLA5A http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003683 ITGAL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LFA1A http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/OGG_3000003684 ITGAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/OGG_3000003687 ITGAX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLEB6 http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/OGG_3000003691 ITGB4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD104 http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000003725 JUN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-Jun http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000003753 KCNE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MinK http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000003758 KCNJ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ROMK http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000003776 KCNK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hTREK-1e http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/OGG_3000083416 FCRL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO820 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/OGG_3000083483 PLVAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp68 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000083697 SLC4A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens AE4 http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000083959 SLC4A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ794I6.2 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/OGG_3000084152 PPP1R1B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DARPP32 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000084879 MFSD2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MFSD2 http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/OGG_3000092292 GLYATL1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GATF-C http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/OGG_3000114548 NLRP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MWS http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000115111 SLC26A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SUT2 http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000115584 SLC5A11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT6 http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/OGG_3000116255 MOGAT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DGAT2L http://purl.obolibrary.org/obo/OGG_3000116496 FAM129A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NIBAN http://purl.obolibrary.org/obo/OGG_3000123876 ACSM2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens A-923A4.1 http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/OGG_3000127124 ATP6V1G3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Vma10 http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000131920 TMEM207 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ846 http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000140628 GATA5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bB379O24.1 http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/OGG_3000140711 TLDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ132F21.2 http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/OGG_3000140803 TRPM6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSH http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/OGG_3000159963 SLC5A12 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMCT2 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/OGG_3000170482 CLEC4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRO34150 http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/OGG_3000204962 SLC44A5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CTL5 http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/OGG_3000245972 ATP6V0D2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ATP6D2 http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000245973 ATP6V1C2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VMA5 http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/OGG_3000246778 IL27 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL30 http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/OGG_3000253012 HEPACAM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIKI http://purl.obolibrary.org/obo/OGG_3000253559 CADM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens synCAM2 http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000255027 MPV17L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MPV17L1 http://purl.obolibrary.org/obo/OGG_3000256369 LINC00521 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens c14_5713 http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/OGG_3000283420 CLEC9A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UNQ9341 http://purl.obolibrary.org/obo/OGG_3100133941 CD24 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD24A http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/MONDO_0018402 female infertility due to gonadal dysgenesis http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/MONDO_0018457 rare genetic bone development disorder http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0018293 congenital disorder of glycosylation with skin involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/CHEBI_38311 cephem http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/CHEBI_25558 organonitrogen heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33892 iron coordination entity http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/CHEBI_33721 carbohydrate acid anion http://purl.obolibrary.org/obo/CHEBI_29067 carboxylic acid anion http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/CHEBI_51446 organic divalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/CHEBI_33666 polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/CHEBI_27171 organic heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/CHEBI_22506 aminoglycan http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/CHEBI_22984 calcium atom http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_24834 inorganic anion http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/CHEBI_33280 molecular messenger http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/CHEBI_52211 physiological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/CHEBI_38166 organic heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_24531 heterocyclic antibiotic http://purl.obolibrary.org/obo/CHEBI_24532 organic heterocyclic compound http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/CHEBI_36914 inorganic ion http://purl.obolibrary.org/obo/CHEBI_24870 ion http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/CHEBI_49637 hydrogen atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/CHEBI_25699 organic ion http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/CHEBI_25555 nitrogen atom http://purl.obolibrary.org/obo/CHEBI_33300 pnictogen http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/CHEBI_25805 oxygen atom http://purl.obolibrary.org/obo/CHEBI_33303 chalcogen http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/CHEBI_27594 carbon atom http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/CHEBI_25216 metalloporphyrin http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/CHEBI_23443 cyclic amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_33861 transition element coordination entity http://purl.obolibrary.org/obo/CHEBI_33497 transition element molecular entity http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/CHEBI_25585 nonmetal atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/CHEBI_33250 atom http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/CHEBI_25806 oxygen molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_22313 alkaline earth metal atom http://purl.obolibrary.org/obo/CHEBI_33559 s-block element atom http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/CHEBI_33306 carbon group element atom http://purl.obolibrary.org/obo/CHEBI_33560 p-block element atom http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/CHEBI_33663 cyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_24632 hydrocarbon http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/CHEBI_33675 p-block molecular entity http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_24873 iron molecular entity http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/CHEBI_23390 cobalt-corrinoid hexaamide http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_33906 cobalt corrinoid http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_33909 metallotetrapyrrole http://purl.obolibrary.org/obo/CHEBI_36309 cyclic tetrapyrrole http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/CHEBI_36915 inorganic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/CHEBI_50312 onium compound http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/CHEBI_35106 nitrogen hydride http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/CHEBI_23019 carbonyl group http://purl.obolibrary.org/obo/CHEBI_51422 organodiyl group http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/KTAO_0000051 urine hEGF http://purl.obolibrary.org/obo/PR_P01133 pro-epidermal growth factor (human) http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0011458 Abdominal symptom http://purl.obolibrary.org/obo/HP_0025032 Abnormality of digestive system physiology http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/OAE_0000582 sensory capability AE http://purl.obolibrary.org/obo/OAE_0000580 behavioral and neurological AE http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003169 Wounds and Injuries [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000006 Mental Disorders and Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003967 Neurobehavioral Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000022 Elimination [PK] http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000023 Metabolism [PK] http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000026 Hepatic Metabolism [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000024 Site of Metabolism [PK] http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000042 Renal Excretion [PK] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000041 Route of Excretion [PK] http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000066 Small Ion Transport Pump Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000072 Active Transporter Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000228 Structural Macromolecules [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000152 G-Protein-linked Receptor Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000122 Adrenergic Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000153 Adrenergic Receptor Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000117 Dopamine Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000203 Dopamine Receptor Interactions [MoA] http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000142 Biological Macromolecular Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000163 Enzyme Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009915 Unknown Cellular or Molecular Interaction [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009921 Adrenergic beta1-Agonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000245 Adrenergic beta-Agonists [MoA] http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004248 Discrete Subaortic Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000442 Aortic Stenosis, Subvalvular [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000600 Bradycardia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001430 Heart Block [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003118 Ventricular Fibrillation [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001681 Infection [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000538 Mental Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000730 Cerebrovascular Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000689 Cardiovascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000605 Brain Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004102 Intracranial Hemorrhages [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000973 Digestive System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001224 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001317 Gastroenteritis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001698 Intestinal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001320 Gastrointestinal Diseases [Disease/Finding] http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000469 Arrhythmias, Cardiac [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000683 Cardiac Output, Low [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001434 Heart Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001443 Heart Valve Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000445 Aortic Valve Stenosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003119 Ventricular Outflow Obstruction [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001485 Hemorrhagic Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001459 Hematologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001466 Hemic and Lymphatic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000999 Drug Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001610 Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000431 Anuria [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001862 Liver Cirrhosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002540 Pulmonary Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002036 Mouth Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002034 Stomatognathic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002132 Neoplasms, Germ Cell and Embryonal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002129 Neoplasms by Histologic Type [Disease/Finding] http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002139 Neoplasms, Nerve Tissue [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002155 Nephrotic Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002153 Nephrosis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000709 Central Nervous System Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002159 Nervous System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004080 Neurotoxicity Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002173 Neurologic Manifestations [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002390 Pheochromocytoma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001481 Hemorrhage [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002467 Postoperative Complications [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001000 Drug Toxicity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001879 Lung Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002602 Respiratory Tract Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001057 Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000939 Dermatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002763 Skin Diseases, Genetic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002748 Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002872 Pathological Conditions, Signs and Symptoms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001324 Genital Diseases, Male [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003085 Male Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001748 Kidney Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003082 Urination Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001616 Hypertension [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003111 Vascular Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003573 Skin and Connective Tissue Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003613 Neuroectodermal Tumors [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002299 Paraganglioma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003804 Neuroendocrine Tumors [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000840 Consciousness Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003976 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002855 Substance Withdrawal Syndrome [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003977 Substance-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003982 Alcohol-Related Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004170 Alcohol-Induced Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007897 Glycosides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179412 Dopamine Hydrochloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006847 Fatty Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006055 Dobutamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008046 Sulfites [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006932 Chlorothiazide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007630 Acids, Noncarboxylic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007681 Amides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011324 Aza Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006091 Dopamine [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007715 Catecholamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007586 Biogenic Monoamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007526 Phenethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007554 Benzothiadiazines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007503 Alkaloids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008258 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008095 Heterocyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007627 Acids, Acyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008137 Carboxylic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007809 Naphthalenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007726 Biogenic Amines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008011 Ethylamines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008168 Amines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007541 Anions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008164 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008053 Sulfones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000166469 Thiazides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008249 Sulfur Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007626 Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007912 Elements [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007960 Isoquinolines [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008260 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008197 Ions [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008272 Electrolytes [Chemical/Ingredient] http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008229 Hydrocarbons, Aromatic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008280 Hydrocarbons, Cyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009941 Systemic Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009826 Renal Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009809 Positive Inotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009808 Positive Chronotropy [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008328 Cardiac Contractility Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008329 Cardiac Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008307 Blood & Lymphatic Fluid Function Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009076 Immunologically Active Molecule Production Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175550 Decreased Immunologic Activity [PE] http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009168 Increased Cardiac Muscle Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009446 Increased Muscular System Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009275 Increased Distal Tubule H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009548 Increased Renal H+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009277 Increased Distal Tubule K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009551 Increased Renal K+ Excretion [PE] http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009279 Increased Distal Tubule Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009553 Increased Renal Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008669 Decreased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009027 Electrical Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008331 Cardiovascular Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009069 Hemic/Lymphatic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009759 Nervous System Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009460 Increased Organized Electrical Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009774 Organized Electrical Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009057 Generalized Systemic Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009770 Organ System Specific Effects [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009830 Renal Ion Transport Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008953 Decreased Striated Muscle Contraction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009879 Striated Muscle Contraction Alteration [PE] http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008298 Arterial Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009908 Vasoconstriction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008299 Arterial Vasodilation [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009909 Vasodilation [PE] http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010195 Pregnancy [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010197 Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147822 DOBUTAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011330 Macrocyclic Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009906 Vascular Tone Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020002 Vascular Alterations [PE] http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135726 Liquid [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135762 Orderable Drug Form [Dose Form] http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135783 Solution [Dose Form] http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135760 Oral Suspension [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135787 Suspension [Dose Form] http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146968 DOPAMINE HYDROCHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147825 DOPAMINE http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003529 Kidney Failure [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178477 Decreased Blood Pressure [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178476 Blood Pressure Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181236 Female Urogenital Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0011384 hypertension, essential, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/MONDO_0011440 hypertension, essential, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/MONDO_0011815 hypertension, essential, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0012109 hypertension, essential, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0012458 hypertension, essential, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/MONDO_0012459 hypertension, essential, susceptibility to, 6 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/MONDO_0012587 hypertension, essential, susceptibility to, 7 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/MONDO_0012599 HYT8 http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/MONDO_0009772 oculorenocerebellar syndrome http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015491 immune complex mediated vasculitis http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/MONDO_0017281 renal caliceal diverticuli-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/MONDO_0016133 rare hereditary metabolic disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/MONDO_0016403 mitochondrial disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0016337 syndrome associated with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0016341 lysosomal disease with restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/MONDO_0007748 hypercalciuria, absorptive, 2 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/MONDO_0011802 hypercalciuria, absorptive, 1 http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/MONDO_0017121 syndrome with a Dandy-Walker malformation as major feature http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/MONDO_0018036 immunodeficiency due to absence of thymus http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0015877 malformative syndrome with dentinogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/MONDO_0016538 hypotonia-cystinuria syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly http://purl.obolibrary.org/obo/MONDO_0019512 congenital heart malformation http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015920 syndromic neurometabolic disease with X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/MONDO_0016326 lysosomal disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/MONDO_0016327 mitochondrial disease with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/MONDO_0016329 familial syndrome associated with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020051 total autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0020050 autosomal trisomy http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/MONDO_0020060 gonosome structural anomaly http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/MONDO_0020232 musculoskeletal disease with cataract http://purl.obolibrary.org/obo/MONDO_0002081 musculoskeletal system disease http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020228 cataract associated with a metabolic disease http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/MONDO_0020229 cerebral disease with cataract http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/MONDO_0020230 renal disease with cataract http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/MONDO_0020280 metabolic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/MONDO_0020281 metabolic disease with pigmentary retinitis http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/MONDO_0020279 metabolic disease with corneal opacity http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/MONDO_0001304 benign hypertensive renal disease http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0018265 rare disorder with dystonia and other neurologic or systemic manifestation http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/KTAO_0000040 predictive CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/KTAO_0000041 diagnostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/KTAO_0000042 prognostic CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/KTAO_0000046 CKD protein biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/KTAO_0000047 CKD RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/KTAO_0000048 CKD gene marker http://purl.obolibrary.org/obo/KTAO_0000027 CKD biomarker http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/KTAO_0000043 prognostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://purl.obolibrary.org/obo/KTAO_0000044 diagnostic AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/KTAO_0000045 predictive AKI biomarker http://purl.obolibrary.org/obo/KTAO_0000028 AKI biomarker http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000029 kidney cell lineage marker http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/KTAO_0000052 kidney podocyte cell lineage gene marker http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/KTAO_0000030 kidney podocyte lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/KTAO_0000032 kidney parietal epithelial cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000031 renal corpuscle cell lineage marker http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/KTAO_0000034 kidney proximal tubule cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/KTAO_0000035 kidney looo of Henle, thin limb cell lineage marker http://purl.obolibrary.org/obo/KTAO_0000033 kidney tubule cell lineage marker http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/KTAO_0000026 kidney disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/PATO_0000068 qualitative http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/HP_0000001 All http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/PATO_0002062 physical quality of a process http://purl.obolibrary.org/obo/PATO_0001236 process quality http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/PATO_0002290 aplastic/hypoplastic http://purl.obolibrary.org/obo/PATO_0001241 physical object quality http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/MONDO_0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/MONDO_0010581 diabetes insipidus, nephrogenic, X-linked http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/MONDO_0009368 urofacial syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0001647 benign renovascular hypertension http://purl.obolibrary.org/obo/MONDO_0001646 benign secondary hypertension http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension http://purl.obolibrary.org/obo/MONDO_0006846 malignant hypertension http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder http://purl.obolibrary.org/obo/MONDO_0001223 parathyroid gland disease http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system http://purl.obolibrary.org/obo/MONDO_0001854 lacrimal apparatus disease http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0009967 renal tubular acidosis 3 http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/MONDO_0015895 syndrome with hypoparathyroidism http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017118 syndrome with a cerebellar malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/MONDO_0017119 syndrome with microcephaly as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/MONDO_0004840 non-congenital cyst of kidney http://purl.obolibrary.org/obo/MONDO_0002473 cystic kidney disease http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/MONDO_0019706 lysosomal storage disease with skeletal involvement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/MONDO_0001786 uterine inflammatory disease http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/MONDO_0008680 Wilms tumor 2 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/MONDO_0008683 Wilms tumor 3 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/MONDO_0011056 Wilms tumor 4 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/MONDO_0020152 rare eyelid malformation http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0003382 eyelid disease http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/MONDO_0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http://purl.obolibrary.org/obo/MONDO_0003634 proteinuria http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0003830 type 1 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0003831 type 2 papillary adenoma of the kidney http://purl.obolibrary.org/obo/MONDO_0003829 chromophil adenoma of the kidney http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease http://purl.obolibrary.org/obo/MONDO_0021568 renal tubule disease http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/MONDO_0020272 connective tissue disease with eye involvement http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus http://purl.obolibrary.org/obo/MONDO_0005015 diabetes mellitus (disease) http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy http://purl.obolibrary.org/obo/MONDO_0006626 diabetic neuropathy http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005021 dilated cardiomyopathy http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/MONDO_0020484 rare familial disorder with hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/MONDO_0019301 metabolic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/MONDO_0012264 PEE2 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://purl.obolibrary.org/obo/MONDO_0012265 PEE3 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0005086 renal cell carcinoma (disease) http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/MONDO_0008418 scleroderma, familial progressive http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/MONDO_0002047 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005275 lung disease http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/MONDO_0016345 non-familial restrictive cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005201 restrictive cardiomyopathy http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0004369 renal infectious disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0004838 orthostatic proteinuria http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/MONDO_0019747 hematological disorder with renal involvement http://purl.obolibrary.org/obo/MONDO_0005570 hematologic disease http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/MONDO_0020223 lens and zonula anomaly http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/MONDO_0020278 metabolic disease associated with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/MONDO_0008072 IGAN1 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0005372 male infertility http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies http://purl.obolibrary.org/obo/MONDO_0005395 movement disorder http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/MONDO_0017663 inherited tremor disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://purl.obolibrary.org/obo/MONDO_0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/MONDO_0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/MONDO_0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/MONDO_0060564 HELIX syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/MONDO_0002410 pyeloureteritis cystica http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/MONDO_0006964 secondary hyperparathyroidism (disease) http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease http://purl.obolibrary.org/obo/MONDO_0006999 tooth disease http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/MONDO_0054581 Townes-Brocks syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/MONDO_0054582 Townes-Brocks syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/MONDO_0010687 nephrolithiasis, X-linked recessive, with renal failure http://purl.obolibrary.org/obo/MONDO_0008171 nephrolithiasis http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/MONDO_0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/MONDO_0054737 Fraser syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria (disease) http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/MONDO_0009438 hypouricemia, hypercalcinuria, and decreased bone density http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/MONDO_0010620 hypouricemia, familial renal, due to tubular hypersecretion http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/MONDO_0010642 Lesch-Nyhan phenotype with normal HGPRT http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/MONDO_0007887 leiomyoma of vulva and esophagus http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/MONDO_0010832 Bardet-Biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/MONDO_0011523 Bardet-Biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/MONDO_0014433 Bardet-Biedl syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/MONDO_0018288 congenital disorder of glycosylation with hepatic involvement http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0018296 congenital disorder of glycosylation with developmental anomaly http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/MONDO_0018284 congenital disorder of glycosylation with neurological involvement http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/MONDO_0018294 congenital disorder of glycosylation with nephropathy as a major feature http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/MONDO_0018291 congenital disorder of glycosylation with intestinal involvement http://purl.obolibrary.org/obo/MONDO_0015188 metabolic disease with intestinal involvement http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0015925 interstitial lung disease http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/MONDO_0020227 systemic disease with cataract http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0011755 SLSN3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0003941 classic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/MONDO_0003942 eosinophilic variant of chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/MONDO_0017885 chromophobe renal cell carcinoma http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0007601 familial Mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/MONDO_0018290 congenital disorder of glycosylation with cardiac malformation as a major feature http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/MONDO_0011531 Noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis (disease) http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0019602 other inborn metabolic disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/MONDO_0020142 metabolic disease with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/MONDO_0018589 AApoAIV amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/MONDO_0018613 AH amyloidosis http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://purl.obolibrary.org/obo/MONDO_0008545 thalassemia, beta+, silent allele http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis http://purl.obolibrary.org/obo/MONDO_0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0018671 IgG4-related kidney disease http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/MONDO_0016132 rare hereditary disease with peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/MONDO_0020244 unclassified primitive or secondary maculopathy http://purl.obolibrary.org/obo/MONDO_0020242 genetic macular dystrophy http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/MONDO_0015922 channelopathy with epilepsy http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/MONDO_0020681 Ehlers-Danlos syndrome, musculocontractural type 1 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0018414 female infertility due to an implantation defect of genetic origin http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/MONDO_0017970 46,XY disorder of sex development due to impaired androgen production http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/MONDO_0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0018287 congenital disorder of glycosylation with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0010596 membranoproliferative glomerulonephritis, X-linked http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/MONDO_0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/MONDO_0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0017274 autosomal ichthyosis syndrome with other associated signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/MONDO_0017272 autosomal ichthyosis syndrome with prominent neurologics signs http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/MONDO_0017273 autosomal ichthyosis syndrome with fatal disease course http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/MONDO_0018359 neonatal dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/MONDO_0018377 rare hereditary disease with avascular necrosis http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/MONDO_0018389 male infertility due to gonadal dysgenesis or sperm disorder http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/MONDO_0018395 male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0018390 male infertility due to sperm disorder http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/MONDO_0018409 rare genetic disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0018407 male infertility due to obstructive azoospermia of genetic origin http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/MONDO_0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/MONDO_0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation http://purl.obolibrary.org/obo/MONDO_0019067 idiopathic steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/MONDO_0017141 hemorrhagic disorder due to a constitutional thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0019097 hemorrhagic disorder due to a constitutional platelet anomaly http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0019728 heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/MONDO_0019729 light and heavy chain deposition disease http://purl.obolibrary.org/obo/MONDO_0019463 non-amyloid monoclonal immunoglobulin deposition disease http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/MONDO_0017971 46,XY disorder of sex development due to a cholesterol synthesis defect http://purl.obolibrary.org/obo/MONDO_0019594 46,XY disorder of sex development due to a testosterone synthesis defect http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/MONDO_0019646 unilateral congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/MONDO_0019647 congenital bilateral megacalycosis http://purl.obolibrary.org/obo/MONDO_0019639 congenital megacalycosis http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020052 partial autosomal trisomy/tetrasomy http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/MONDO_0016867 partial deletion of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/MONDO_0016872 partial deletion of chromosome 7 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/MONDO_0016873 partial deletion of chromosome 8 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/MONDO_0016875 partial deletion of chromosome 10 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/MONDO_0016876 partial deletion of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/MONDO_0016878 partial deletion of chromosome 16 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/MONDO_0016879 partial deletion of chromosome 17 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/MONDO_0016882 partial deletion of chromosome 20 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/MONDO_0016920 partial deletion of the long arm of chromosome 22 http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/MONDO_0020057 uniparental disomy of paternal origin http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/MONDO_0016999 X chromosome number anomaly http://purl.obolibrary.org/obo/MONDO_0020059 gonosome number anomaly http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/MONDO_0017003 partial deletion of chromosome X http://purl.obolibrary.org/obo/MONDO_0020062 chromosome X structural anomaly http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/HP_0011277 Abnormality of the urinary system physiology http://purl.obolibrary.org/obo/HP_0000079 Abnormality of the urinary system http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/HP_0000800 Cystic renal dysplasia http://purl.obolibrary.org/obo/HP_0000107 Renal cyst http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/HP_0001507 Growth abnormality http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0000789 Infertility http://purl.obolibrary.org/obo/HP_0000144 Decreased fertility http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/HP_0000133 Gonadal dysgenesis http://purl.obolibrary.org/obo/HP_0000812 Abnormal internal genitalia http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0008373 Puberty and gonadal disorders http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/HP_0002438 Cerebellar malformation http://purl.obolibrary.org/obo/HP_0001317 Abnormal cerebellum morphology http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/HP_0007367 Atrophy/Degeneration affecting the central nervous system http://purl.obolibrary.org/obo/HP_0002011 Morphological central nervous system abnormality http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/HP_0007364 Aplasia/Hypoplasia of the cerebrum http://purl.obolibrary.org/obo/HP_0002977 Aplasia/Hypoplasia involving the central nervous system http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/HP_0002350 Cerebellar cyst http://purl.obolibrary.org/obo/HP_0010576 Intracranial cystic lesion http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration http://purl.obolibrary.org/obo/HP_0007369 Atrophy/Degeneration affecting the cerebrum http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/HP_0001005 Dermatological manifestations of systemic disorders http://purl.obolibrary.org/obo/HP_0011354 Generalized abnormality of skin http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/HP_0011443 Abnormality of coordination http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity http://purl.obolibrary.org/obo/HP_0011733 Abnormality of adrenal physiology http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0002898 Embryonal neoplasm http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/HP_0011804 Abnormal muscle physiology http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/HP_0000811 Abnormal external genitalia http://purl.obolibrary.org/obo/HP_0012243 Abnormal reproductive system morphology http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0004329 Abnormal posterior eye segment morphology http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye http://purl.obolibrary.org/obo/HP_0012372 Abnormal eye morphology http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0006919 Abnormal aggressive, impulsive or violent behavior http://purl.obolibrary.org/obo/HP_0100851 Abnormal emotion/affect behavior http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/ExO_0000002 exposure event http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000011 spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000003 occurrent http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/BFO_0000028 three-dimensional spatial region http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000003 Clinical Kinetics [PK] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009802 Physiological Effects [PE] http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/BFO_0000182 history http://purl.obolibrary.org/obo/BFO_0000015 process http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000004 Diseases, Manifestations or Physiologic States [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000016 disposition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/BFO_0000034 function http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/BFO_0000023 role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/OPMI_0000070 month of year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010010 Dose Forms [Dose Form] http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/BFO_0000024 fiat object part http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/BFO_0000027 object aggregate http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/BFO_0000030 object http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/BFO_0000006 spatial region http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/IAO_0000429 email address http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/IAO_0000057 contour plot http://purl.obolibrary.org/obo/IAO_0000038 graph http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010582 Drug Products by Generic Ingredient Combinations http://purl.obolibrary.org/obo/OBI_0000047 processed material http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/NCBITaxon_2157 Archaea http://purl.obolibrary.org/obo/OBI_0100026 organism http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/CHEBI_33720 carbohydrate acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/CHEBI_46883 carboxy group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CHEBI_13941 carbamate http://purl.obolibrary.org/obo/CHEBI_37022 amino-acid anion http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CHEBI_43176 hydroxy group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/CHEBI_46629 oxo group http://purl.obolibrary.org/obo/CHEBI_33246 inorganic group http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/CHEBI_29337 azanide http://purl.obolibrary.org/obo/CHEBI_79389 monovalent inorganic anion http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/CL_0000329 oxygen accumulating cell http://purl.obolibrary.org/obo/CL_0000003 native cell http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/CL_0000354 blastemal cell http://purl.obolibrary.org/obo/CL_0000048 multi fate stem cell http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/CL_1000692 kidney interstitial fibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/CL_0000666 fenestrated cell http://purl.obolibrary.org/obo/CL_0000066 epithelial cell http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/CL_0000239 brush border epithelial cell http://purl.obolibrary.org/obo/CL_0000075 columnar/cuboidal epithelial cell http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/CL_0000072 non-branched duct epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/CL_1000693 kidney interstitial fibrocyte http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CL_0000154 protein secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/CL_0000159 seromucus secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/CL_0000168 insulin secreting cell http://purl.obolibrary.org/obo/CL_0000167 peptide hormone secreting cell http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/CL_0000457 biogenic amine secreting cell http://purl.obolibrary.org/obo/CL_0000151 secretory cell http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/CL_1000691 kidney interstitial myofibroblast http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/CL_1000702 kidney pelvis smooth muscle cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/CL_0000255 eukaryotic cell http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CL_0000548 animal cell http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/CL_1000703 kidney pelvis urothelial cell http://purl.obolibrary.org/obo/CL_1000505 kidney pelvis cell http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell http://purl.obolibrary.org/obo/CL_1001319 bladder cell http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/CL_1000697 kidney interstitial suppressor macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CL_1000696 kidney interstitial inflammatory macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/CL_1000695 kidney interstitial alternatively activated macrophage http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/CL_1000699 kidney resident dendritic cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CL_0000995 CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/CL_0001012 CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor http://purl.obolibrary.org/obo/CL_0001060 hematopoietic oligopotent progenitor cell, lineage-negative http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CL_1001064 kidney artery smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/CL_1001066 kidney arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/CL_1001068 kidney venous system smooth muscle cell http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/CL_1001005 glomerular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1000892 kidney capillary endothelial cell http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002305 epithelial cell of distal tubule http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/CL_1000850 macula densa epithelial cell http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/CL_1001016 kidney loop of Henle ascending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/CL_1000838 kidney proximal convoluted tubule epithelial cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/CL_1000839 kidney proximal straight tubule epithelial cell http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/CL_0000095 neuron associated cell http://purl.obolibrary.org/obo/CL_0002319 neural cell http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/CL_1001220 arcuate vein endothelial cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/CL_1001223 interlobulary vein endothelial cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/CL_1000449 epithelial cell of nephron http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/CL_1000681 kidney cortex interstitial cell http://purl.obolibrary.org/obo/CL_1000500 kidney interstitial cell http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000596 inner renal cortex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_1000618 juxtaglomerular complex cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1000454 kidney collecting duct epithelial cell http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/CL_1001096 kidney afferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/CL_1001099 kidney efferent arteriole endothelial cell http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/CL_1001213 arcuate artery endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_1001216 interlobulary artery endothelial cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/CL_1000022 mesonephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/CL_1000090 pronephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000123 metanephric nephron tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000507 kidney tubule cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell http://purl.obolibrary.org/obo/CL_1000615 kidney cortex tubule cell http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/CL_1000494 nephron tubule epithelial cell http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/CL_1000606 kidney nerve cell http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/CL_1000616 kidney outer medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000617 kidney inner medulla cell http://purl.obolibrary.org/obo/CL_1000504 kidney medulla cell http://purl.obolibrary.org/obo/CL_1000718 kidney inner medulla collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/CL_1000719 kidney inner medulla collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/CL_1000714 kidney cortex collecting duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/CL_1000720 kidney papillary duct intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/CL_1000721 kidney papillary duct principal cell http://purl.obolibrary.org/obo/CL_1001431 kidney collecting duct principal cell http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/CL_1000612 kidney corpuscule cell http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CL_1001006 kidney afferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/CL_1001009 kidney efferent arteriole cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/CL_1000804 kidney outer medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/CL_1001123 kidney outer medulla peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/CL_1001127 outer renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/CL_1000803 kidney inner medulla interstitial cell http://purl.obolibrary.org/obo/CL_1000682 kidney medulla interstitial cell http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/CL_1001126 inner renal medulla vasa recta cell http://purl.obolibrary.org/obo/CL_1001036 vasa recta cell http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://purl.obolibrary.org/obo/CL_1000510 kidney glomerular epithelial cell http://purl.obolibrary.org/obo/CL_1000746 glomerular cell http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/CL_1000854 kidney blood vessel cell http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/CL_1000891 kidney arterial blood vessel cell http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/CL_1000893 kidney venous blood vessel cell http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/CL_1001021 kidney loop of Henle descending limb epithelial cell http://purl.obolibrary.org/obo/CL_1000909 kidney loop of Henle epithelial cell http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/CL_1001097 kidney afferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/CL_1001100 kidney efferent arteriole smooth muscle cell http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://purl.obolibrary.org/obo/CL_1001124 kidney cortex peritubular capillary cell http://purl.obolibrary.org/obo/CL_1001033 peritubular capillary endothelial cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/CL_1001045 kidney cortex artery cell http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001052 kidney cortex vein cell http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/CL_1001214 arcuate artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001135 arcuate artery cell http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CL_1001217 interlobulary artery smooth muscle cell http://purl.obolibrary.org/obo/CL_1001138 interlobular artery cell http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://purl.obolibrary.org/obo/CL_1001221 arcuate vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001142 arcuate vein cell http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CL_1001224 interlobulary vein smooth muscle cell http://purl.obolibrary.org/obo/CL_1001145 interlobular vein cell http://purl.obolibrary.org/obo/CL_1001209 inner medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/CL_1001286 inner medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/CL_1001210 outer medulla vasa recta ascending limb cell http://purl.obolibrary.org/obo/CL_1001131 vasa recta ascending limb cell http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/CL_1001287 outer medulla vasa recta descending limb cell http://purl.obolibrary.org/obo/CL_1001285 vasa recta descending limb cell http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/CL_1000550 kidney papillary duct principal epithelial cell http://purl.obolibrary.org/obo/CL_1001225 kidney collecting duct cell http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/NCBITaxon_4896 Schizosaccharomyces pombe http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000000335 APOA1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/OGG_3000000049 ACR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000000337 APOA4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000000567 B2M http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/OGG_3000000712 C1QA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/OGG_3000000713 C1QB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/OGG_3000000730 C7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/OGG_3000000929 CD14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/OGG_3000000947 CD34 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000001007 CDH9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000001285 COL4A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000001289 COL5A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000001363 CPE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000002841 GPR18 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000003310 HSPA6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/OGG_3000003625 INHBB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000003693 ITGB5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/OGG_3000093349 SP140L http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/OGG_3000148641 SLC35F3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/OGG_3000155006 TMEM213 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OGG_3000171024 SYNPO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/MONDO_0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis http://purl.obolibrary.org/obo/MONDO_0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/MONDO_0013480 renal hypomagnesemia 6 http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CHEBI_27314 water-soluble vitamin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/CHEBI_36585 pseudoketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/CHEBI_23334 cobalamins http://purl.obolibrary.org/obo/CHEBI_23341 cobamides http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/CHEBI_33695 information biomacromolecule http://purl.obolibrary.org/obo/CHEBI_33694 biomacromolecule http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/CHEBI_33356 iron group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/CHEBI_35293 fused compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/CHEBI_33608 hydrogen molecular entity http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/CHEBI_33744 iron group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_33676 d-block molecular entity http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/CHEBI_37176 mononuclear parent hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/CHEBI_33700 proteinogenic amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33710 alpha-amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/CHEBI_33767 cobalt group molecular entity http://purl.obolibrary.org/obo/CHEBI_35296 ortho-fused polycyclic arene http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33890 cobalt coordination entity http://purl.obolibrary.org/obo/CHEBI_33888 cobalt molecular entity http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/HP_0012145 Abnormality of multiple cell lineages in the bone marrow http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/NCBITaxon_10407 Hepatitis B virus http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/NCBITaxon_11676 Human immunodeficiency virus 1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/NCBITaxon_11709 Human immunodeficiency virus 2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/NCBITaxon_38254 Glaucocystophyceae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCBITaxon_1773 Mycobacterium tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/OPMI_0000012 body temperature measured orally http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/OPMI_0000013 body temprature by ear (tempanic, aural) http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/OPMI_0000014 body temprature by forhead http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/OPMI_0000015 arterial line body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000016 body temprature by other measurement http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/NCBITaxon_4895 Schizosaccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://purl.obolibrary.org/obo/MONDO_0020138 ataxia with dementia http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/FOODON_03412972 food additive http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/HP_0100502 Vitamin B12 deficiency http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021141 acquired http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/NCBITaxon_3312 Coniferophyta http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_4932 Saccharomyces cerevisiae http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015651 neurocutaneous syndrome with epilepsy http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019983 multiloculated renal cyst http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000008 individual plan insurance (paid by the member) http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/OPMI_0000009 group plan insurance through employee union http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/OPMI_0000011 no insurance status http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/OPMI_0000004 more than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000005 less than 5.5 pounds (2500 grams) birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/OPMI_0000006 unknown birth weight http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000007 birth weight declined to answer http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/MONDO_0020258 oculomotor apraxia or related oculomotor disease http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/MONDO_0018236 dysostosis with limb and face anomalies as a major feature http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/MONDO_0018560 anterior urethral valve http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0003272 mixed epithelial stromal tumor http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/MONDO_0020054 partial autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/MONDO_0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/MONDO_0019827 disease associated with non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015329 malformation syndrome with short stature http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/MONDO_0015332 rare developmental defect with connective tissue involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/MONDO_0015336 malformation syndrome with odontal and/or periodontal component http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020055 autosomal uniparental disomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020274 onycho-patellar syndrome with eye involvement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/OAE_0000001 adverse event http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process adverse reaction a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OAE_0000631 serious adverse event http://purl.obolibrary.org/obo/OAE_0000001 adverse event serious adverse event serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role physician A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/OPMI_0000215 last four digits of social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID last 4 digits of SSN The last four digits of a social security number, which is often asked in a survey form. http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000217 self http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens human self The self is an individual person as the object of his or her own reflective consciousness. http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/OPMI_0000229 health care http://purl.obolibrary.org/obo/BFO_0000015 process healthcare Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000273 hypertensive chronic kidney disease http://purl.obolibrary.org/obo/MONDO_0005300 chronic kidney disease H-CKD A chronic kidney disease that is accompanied with elevated blood pressure or hypertension http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record http://purl.obolibrary.org/obo/IAO_0000030 information content entity EHR A systematized collection of patient and population electronically-stored health information in a digital format http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000326 status health state The state of being free from illness or injury http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000282 medical condition http://purl.obolibrary.org/obo/BFO_0000017 realizable entity medical state The medical state or condition of a patient http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region visit time the date or time on which a visit occurs http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/OPMI_0000286 barcode http://purl.obolibrary.org/obo/IAO_0000578 CRID bar code a machine-readable centrally registered identifier that is represented in a visual format on a surface http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0000399 secondary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role collaborator role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/OPMI_0000402 investigation collaborator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role collaborator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000410 collaborator http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent investigation collaborator An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000589 condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Condition Occurrence Type Concept An electronic health record that records the information of medical condition. http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/OPMI_0000590 electronic health cost record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Cost Type Concept An electronic health record that records the information of medical cost. http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000591 electronic death record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Death Type Concept An electronic health record that records the information of the death record of a person. http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/OPMI_0000592 electronic device record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Device Type Concept An electronic health record that records the information of medical device usage. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/OPMI_0000593 electronic drug record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Drug Type Concept An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000595 electronic episode record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of medical Episode record. http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/OPMI_0000596 electronic measurement record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Measurement Type Concept An electronic health record that records the information of medical measurement record. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/OPMI_0000597 electronic health note record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Note Type Concept An electronic health record that records the information of medical notes. http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/OPMI_0000598 electronic health observation record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Observation Type Concept An electronic health record that records the information of medical observational record. http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/OPMI_0000599 electronic health procedure record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Procedure Type Concept An electronic health record that records the information of Procedure record. http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OPMI_0000600 electronic specimen record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Specimen Type Concept An electronic health record that records the information of the specimen record. http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/OPMI_0000601 electronic medical visit record http://purl.obolibrary.org/obo/OPMI_0000275 electronic health record Visit Type Concept An electronic health record that records the information of medical visit. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/OPMI_0000605 primary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary diagnosis The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/OPMI_0000615 death diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis death diagnosis The diagnosis of the death of a person http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/OPMI_0000617 postoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OMRSE_00000000 social security number http://purl.obolibrary.org/obo/IAO_0000578 CRID SSN Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes health care role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/OMRSE_00000011 patient role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role patient A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/OMRSE_00000014 nurse role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role nurse A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/OMRSE_00000066 pediatric trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role pediatric trauma patient A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role injured patient A patient role that inheres an organism suffering one or more injuries. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/OMRSE_00000072 physiatrist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role physiatrist A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/OMRSE_00000073 trauma patient role http://purl.obolibrary.org/obo/OMRSE_00000011 patient role trauma patient A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/OAE_0004431 puncturing of adjacent organ AE http://purl.obolibrary.org/obo/OAE_0000066 surgery AE puncturing of adjacent organs An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/OPMI_0000451 cell lineage biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker cell type marker A biomarker that is an indicator of a cell lineage or cell type http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/OPMI_0000458 DNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker genomic biomarker A molecular biomarker at the DNA gene level http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000459 RNA biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker transcriptomic biomarker A molecular biomarker at the RNA level http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000460 protein biomarker http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker proteomic biomarker A molecular biomarker at the protein level http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OMRSE_00000008 male gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role male gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/OMRSE_00000009 female gender role http://purl.obolibrary.org/obo/OMRSE_00000007 gender role female gender A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/OPMI_0000575 observation period http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region participant observation duration time A period time when an observation is conducted. http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex http://purl.obolibrary.org/obo/GO_0005575 cellular_component protein complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/GO_0042571 immunoglobulin complex, circulating http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex antibody An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000480 care site identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID care site id A centrally registered identifier that refers to where the care provider typically provides the primary care. http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000482 medical visit http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence visit occurrence A medical occurrence where a person engages with the healthcare system for a duration of time. http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000483 visit occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID visit occurrence id A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/OPMI_0000484 inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit inpatient visit occurrence A vist ocurrence in which the patient's condition requires admission to a hospital. http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OPMI_0000485 outpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit outpatient visit occurrence A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000486 emergency room visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit ER visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/OPMI_0000487 visit start date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start date The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OPMI_0000488 visit end date http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/OPMI_0000490 visit start datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit start datetime The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/OPMI_0000491 visit end datetime http://purl.obolibrary.org/obo/OPMI_0000285 visit temporal region clinical visit end datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OPMI_0000492 preceding medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit preceding visit occurrence A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/OPMI_0000495 home medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit home visit A visit where a provider visits a person, without a care site, within one day, delivering service http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/OPMI_0000498 laboratory medical visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit laboratory visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/OPMI_0000503 National Provider Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Providier Number A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/OPMI_0000505 medical procedure occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence procedure occurrence A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000506 procedure occurrence identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID procedure occurrence ID A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region procedure time A temporal region that is associated with a procedure http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OPMI_0000508 procedure start date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure starts http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/OPMI_0000509 procedure start datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure starts http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OPMI_0000510 procedure end date http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date when a procedure ends http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000511 procedure end datetime http://purl.obolibrary.org/obo/OPMI_0000507 procedure temporal region procedure date The date and time when a procedure ends http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record http://purl.obolibrary.org/obo/IAO_0000030 information content entity type concept The information content entity that represents the origin of record such as the clinical form as the origin record of death. http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000513 provenance of procedure record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000514 death diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status death diagnosis The status of being diagnosed as death http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000515 provenance of cost record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Cost Type Concept A provenance of record that designates the source (provenance) of the cost data. http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/OPMI_0000516 provenance of death record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Death Type Concept A provenance of record that determines the provenance of the death record, i.e., where it came from. http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000517 provenance of device record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Device Type Concept A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000518 provenance of drug record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Drug Type Concept A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000519 provenance of episode record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Procedure Type Concept A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/OPMI_0000520 provenance of measurement record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Measurement Type Concept A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000521 provenance of note record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Note Type Concept A provenance of record that determines the provenance of the note. http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/OPMI_0000522 provenance of observation record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Observation Type Concept A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000523 provenance of specimen record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Specimen Type Concept A provenance of record that determines the source of the specimen record, as in an EHR system. http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/OPMI_0000524 provenance of visit record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Visit Type Concept A provenance of record that determines the provenance of the visit record, or where the record comes from. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://purl.obolibrary.org/obo/OPMI_0000525 provenance of condition occurrence record http://purl.obolibrary.org/obo/OPMI_0000512 provenance of record Condition Occurrence Type Concept A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary diagnosis The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/OPMI_0000527 medical condition occurrence http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence condition occurrence A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region condition time the date or time on which a condition occurs http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/OPMI_0000529 condition end date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end date The date on which a condition ends. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/OPMI_0000530 condition end datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition end datetime The date and time on which a clinical condition ends. http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/OPMI_0000531 condition start date http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start date The date on which a condition starts. http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000532 condition start datetime http://purl.obolibrary.org/obo/OPMI_0000528 condition temporal region clinical condition start datetime The date and time on which a condition starts. http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000326 status diagnosis status The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000535 primary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000526 primary diagnosis status primary admission diagnosis The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OPMI_0000539 postoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status primary admission diagnosis A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status admission diagnosis An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status cause of death A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/OPMI_0000554 medical device exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure device exposure A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/OPMI_0000570 drug refills specification http://purl.obolibrary.org/obo/IAO_0000007 action specification drug refills specification from prescription An action specification that represents the intended refills at time of the prescription. http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/OPMI_0000574 days of drug supply http://purl.obolibrary.org/obo/IAO_0000109 measurement datum days supply of drug This days of the supply of a drug that is given on the prescription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature mesoscopic physical object An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000165 centrally registered study identifier symbol http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol study ID a centrally registered identifier symobol that refers to a specific study http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/OPMI_0000179 Whether pregnant http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question Whether pregnancy occurs now A pregnancy question that asks whether a person is pregnant at the moment of being questioned http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/OPMI_0000428 child age data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data child human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data adult human subject The regular aged adult group is defined here as an individual over 18 years of age. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://purl.obolibrary.org/obo/OPMI_0000430 older adult data of human subject (by NIH) http://purl.obolibrary.org/obo/OPMI_0000429 adult age data of human subject older adult human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/OPMI_0000390 investigator role http://purl.obolibrary.org/obo/OBI_0000202 investigation agent role human investigator role An investigation agent role that is taken by a human individual http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/OPMI_0000395 central contact person of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to whom questions concerning enrollment at any location of the study can be addressed. http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000396 central contact backup of study http://purl.obolibrary.org/obo/OPMI_0000383 contact person central contact person A person to contact if Central Contact is not available. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/OBIB_0000714 date of specimen collection http://purl.obolibrary.org/obo/IAO_0000027 data item date of specimen preparation A data item that indicates the time when the collection of a specimen occurred. http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/OBI_0002198 molecular analysis facility organization http://purl.obolibrary.org/obo/OBI_0000245 organization MAF An organization that provides molecular analysis service. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000119 postal code http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol postcode A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/OPMI_0000124 part time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status part-time employment a status of employment that carries fewer hours per week than a full-time job. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000129 temporary employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status temporary work An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000130 Master's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level MS degree completed An education level that indicates that the highest level of education achievement for a person is a Master's degree. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000131 academic Doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level PhD degree completed An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000134 Bachelor's degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level Bacholar's degree completed An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/OPMI_0000140 GED education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent general equivalency diploma completion An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question do not know answer to question An answer to question that indicates the response to the specified question is unknown. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000027 declined to answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question refused to answer An answer to question where one declines to answer the specified question. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF demographics form A form with questions that includes statistical data related to particular groups within a population where a person belongs to http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/IAO_0000310 document CRF A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000289 USA National Clinical Trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID National Clinical Trial identifier A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/OPMI_0000300 clinical trial primary purpose specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification primary purpose of clinical trial The main objective of the intervention(s) being evaluated by the clinical trial. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000303 primary health outcome measurement datum http://purl.obolibrary.org/obo/IAO_0000109 measurement datum primary outcome A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/OPMI_0000307 electronic case report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form eCRF A case report form that is presented in an electronic format http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/OPMI_0000324 person first and last name http://purl.obolibrary.org/obo/OPMI_0000094 person name human first and last name A person name that includes both the first and last name http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form http://purl.obolibrary.org/obo/OPMI_0000039 case report form Patient-Reported Outcome Measures form A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase http://purl.obolibrary.org/obo/PATO_0001236 process quality clinical trial stage The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/OPMI_0000368 clinical trial phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase I A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000369 clinical trial phase 2 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase II A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000370 clinical trial phase 3 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase III A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000371 clinical trial phase 4 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Phase IV A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000372 clinical trial early phase 1 http://purl.obolibrary.org/obo/OPMI_0000367 clinical trial phase Pre-Clinical Phase A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/OPMI_0004475 age less than 18 years http://purl.obolibrary.org/obo/PATO_0000011 age age less than 18 years old A age quality that is measured by the value of less than 18 years old http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial http://purl.obolibrary.org/obo/OPMI_0000418 human subject study interventional trial a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/OPMI_0004508 Early Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase 0 trial A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/OPMI_0004509 Phase 1 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial clinical trial for safety screening A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/OPMI_0004510 Phase 2 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase II trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/OPMI_0004511 Phase 3 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial Phase III trial A clinical trial that is at Phase 3 http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/GO_0007159 leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway http://purl.obolibrary.org/obo/GO_0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction http://purl.obolibrary.org/obo/GO_0007264 small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/GO_0007268 chemical synaptic transmission http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/GO_0007276 gamete generation http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/GO_0007399 nervous system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/GO_0007498 mesoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/GO_0007548 sex differentiation http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction The establishment of the sex of an organism by physical differentiation. http://purl.obolibrary.org/obo/GO_0007565 female pregnancy http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0007566 embryo implantation http://purl.obolibrary.org/obo/GO_0022414 reproductive process Attachment of the blastocyst to the uterine lining. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/GO_0007568 aging http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/GO_0007586 digestion http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/GO_0007588 excretion http://purl.obolibrary.org/obo/GO_0003008 system process The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0007596 blood coagulation http://purl.obolibrary.org/obo/GO_0050817 coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0007599 hemostasis http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/GO_0007600 sensory perception http://purl.obolibrary.org/obo/GO_0050877 nervous system process The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/GO_0007605 sensory perception of sound http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/GO_0008015 blood circulation http://purl.obolibrary.org/obo/GO_0003013 circulatory system process The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0008083 growth factor activity http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/GO_0008104 protein localization http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization Any process in which a protein is transported to, or maintained in, a specific location. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/GO_0008152 metabolic process http://purl.obolibrary.org/obo/GO_0008150 biological_process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/GO_0008301 DNA binding, bending http://purl.obolibrary.org/obo/GO_0003677 DNA binding The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/GO_0008361 regulation of cell size http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size Any process that modulates the size of a cell. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/GO_0008610 lipid biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0008654 phospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/GO_0009072 aromatic amino acid family metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/GO_0009112 nucleobase metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/GO_0009117 nucleotide metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009152 purine ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009165 nucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/GO_0009206 purine ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0009247 glycolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. http://purl.obolibrary.org/obo/GO_0009566 fertilization http://purl.obolibrary.org/obo/GO_0022414 reproductive process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0010324 membrane invagination http://purl.obolibrary.org/obo/GO_0061024 membrane organization The infolding of a membrane. http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0010876 lipid localization http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization Any process in which a lipid is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/GO_0010970 transport along microtubule http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0012505 endomembrane system http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/GO_0015031 protein transport http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0015075 ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0015166 polyol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/GO_0015297 antiporter activity http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://purl.obolibrary.org/obo/GO_0015301 anion:anion antiporter activity http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0015671 oxygen transport http://purl.obolibrary.org/obo/GO_0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/GO_0015844 monoamine transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/GO_0015925 galactosidase activity http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/GO_0015980 energy derivation by oxidation of organic compounds http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/GO_0015986 ATP synthesis coupled proton transport http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0016020 membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/GO_0016021 integral component of membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/GO_0016043 cellular component organization http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport http://purl.obolibrary.org/obo/GO_0009987 cellular process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/GO_0016310 phosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/GO_0016311 dephosphorylation http://purl.obolibrary.org/obo/GO_0006796 phosphate-containing compound metabolic process The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity Catalysis of the hydrolysis of any glycosyl bond. http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0018108 peptidyl-tyrosine phosphorylation http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/GO_0018212 peptidyl-tyrosine modification http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/GO_0019199 transmembrane receptor protein kinase activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0019219 regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/GO_0019318 hexose metabolic process http://purl.obolibrary.org/obo/GO_0005996 monosaccharide metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0019439 aromatic compound catabolic process http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/GO_0019725 cellular homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the cell. http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/GO_0019752 carboxylic acid metabolic process http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/GO_0021700 developmental maturation http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/GO_0022411 cellular component disassembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A cellular process that results in the breakdown of a cellular component. http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/GO_0022610 biological adhesion http://purl.obolibrary.org/obo/GO_0008150 biological_process The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005215 transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0030003 cellular cation homeostasis http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly http://purl.obolibrary.org/obo/GO_0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/GO_0030054 cell junction http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0030262 apoptotic nuclear changes http://purl.obolibrary.org/obo/GO_0006921 cellular component disassembly involved in execution phase of apoptosis Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/GO_0030317 flagellated sperm motility http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/GO_0030990 intraciliary transport particle http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/GO_0033036 macromolecule localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a macromolecule is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/GO_0034645 cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0035082 axoneme assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0035295 tube development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/GO_0035725 sodium ion transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm http://purl.obolibrary.org/obo/GO_0005911 cell-cell junction A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. http://purl.obolibrary.org/obo/GO_0036211 protein modification process http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/GO_0042044 fluid transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0042158 lipoprotein biosynthetic process http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/GO_0042181 ketone biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0042379 chemokine receptor binding http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding Interacting selectively and non-covalently with any chemokine receptor. http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0016788 hydrolase activity, acting on ester bonds Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/GO_0042579 microbody http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0042886 amide transport http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/GO_0043005 neuron projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/GO_0043085 positive regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that activates or increases the activity of an enzyme. http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/GO_0043292 contractile fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/GO_0043412 macromolecule modification http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/GO_0043413 macromolecule glycosylation http://purl.obolibrary.org/obo/GO_0070085 glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0044042 glucan metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. http://purl.obolibrary.org/obo/GO_0044238 primary metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0044248 cellular catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0044262 cellular carbohydrate metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/GO_0044264 cellular polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/GO_0044706 multi-multicellular organism process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A multicellular organism process which involves another multicellular organism of the same or different species. http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/GO_0046390 ribose phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/GO_0046474 glycerophospholipid biosynthetic process http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/GO_0046488 phosphatidylinositol metabolic process http://purl.obolibrary.org/obo/GO_0006650 glycerophospholipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/GO_0046907 intracellular transport http://purl.obolibrary.org/obo/GO_0051641 cellular localization The directed movement of substances within a cell. http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://purl.obolibrary.org/obo/GO_0046916 cellular transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/GO_0046942 carboxylic acid transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/GO_0048193 Golgi vesicle transport http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/GO_0048523 negative regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/GO_0048609 multicellular organismal reproductive process http://purl.obolibrary.org/obo/GO_0022414 reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/GO_0050817 coagulation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/GO_0050839 cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with a cell adhesion molecule. http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/GO_0050896 response to stimulus http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/GO_0050954 sensory perception of mechanical stimulus http://purl.obolibrary.org/obo/GO_0007600 sensory perception The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/GO_0051234 establishment of localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell http://purl.obolibrary.org/obo/GO_0051234 establishment of localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/GO_0051650 establishment of vesicle localization http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization The directed movement of a vesicle to a specific location. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/GO_0051716 cellular response to stimulus http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0055067 monovalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/GO_0055070 copper ion homeostasis http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_0055074 calcium ion homeostasis http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport http://purl.obolibrary.org/obo/GO_0009987 cellular process The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/GO_0055086 nucleobase-containing small molecule metabolic process http://purl.obolibrary.org/obo/GO_0044281 small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/GO_0060047 heart contraction http://purl.obolibrary.org/obo/GO_0003015 heart process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function A compound molecular function in which an effector function is controlled by one or more regulatory components. http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/GO_0060326 cell chemotaxis http://purl.obolibrary.org/obo/GO_0016477 cell migration The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/GO_0060541 respiratory system development http://purl.obolibrary.org/obo/GO_0048731 system development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/GO_0061024 membrane organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/GO_0061333 renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/GO_0065003 protein-containing complex assembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0070013 intracellular organelle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen An organelle lumen that is part of an intracellular organelle. http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/GO_0070161 anchoring junction http://purl.obolibrary.org/obo/GO_0030054 cell junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0070382 exocytic vesicle http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/GO_0071103 DNA conformation change http://purl.obolibrary.org/obo/GO_0051276 chromosome organization A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0071216 cellular response to biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/GO_0071702 organic substance transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0071705 nitrogen compound transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/GO_0071944 cell periphery http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/GO_0072359 circulatory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process Any cellular metabolic process involving nucleic acids. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/GO_0097014 ciliary plasm http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/GO_0097194 execution phase of apoptosis http://purl.obolibrary.org/obo/GO_0009987 cellular process A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/GO_0098642 network-forming collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer A collagen trimer that forms networks. http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/GO_0098643 banded collagen fibril http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/GO_0098645 collagen network http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A supramolecular complex that consists of collagen triple helices associated to form a network. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/GO_0098651 basement membrane collagen trimer http://purl.obolibrary.org/obo/GO_0005581 collagen trimer Any collagen timer that is part of a basement membrane. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator http://purl.obolibrary.org/obo/GO_0003674 molecular_function A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/GO_0098793 presynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the presynaptic cell. http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0098858 actin-based cell projection http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://purl.obolibrary.org/obo/GO_0098862 cluster of actin-based cell projections http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cell part consisting of multiple, closely packed actin-based cell projections. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/GO_0098916 anterograde trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/GO_0099500 vesicle fusion to plasma membrane http://purl.obolibrary.org/obo/GO_0140029 exocytic process Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving carbohydrate derivative. http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/GO_1901575 organic substance catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/GO_1901606 alpha-amino acid catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic hydroxy compound. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/GO_1901618 organic hydroxy compound transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of organic hydroxy compound from one side of a membrane to the other. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process http://purl.obolibrary.org/obo/GO_0042180 cellular ketone metabolic process The chemical reactions and pathways involving quinone. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/GO_1901663 quinone biosynthetic process http://purl.obolibrary.org/obo/GO_1901661 quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/GO_1902653 secondary alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/GO_1903509 liposaccharide metabolic process http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process The chemical reactions and pathways involving liposaccharide. http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an organic acid is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport The process in which glucose is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/GO_2000112 regulation of cellular macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0045834 positive regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/GO_0048880 sensory system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/GO_0051270 regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0032879 regulation of localization Any process that modulates the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0051641 cellular localization http://purl.obolibrary.org/obo/GO_0051179 localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://purl.obolibrary.org/obo/GO_0051767 nitric-oxide synthase biosynthetic process http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/GO_0065007 biological regulation http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that modulates a measurable attribute of any biological process, quality or function. http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/GO_1902680 positive regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_1903037 regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/GO_1903039 positive regulation of leukocyte cell-cell adhesion http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/GO_1903508 positive regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0004713 Reversible renal failure http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency Acute renal failure with resolution of manifestations. http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/HP_0004717 Axial malrotation of the kidney http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/HP_0004719 Hyperechogenic kidneys http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis The presence of calcium-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/HP_0004727 Impaired renal concentrating ability http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/HP_0004729 Acute tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0004732 Impaired renal uric acid clearance http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion A reduction in the ability of the kidneys to remove uric acid from the serum. http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://purl.obolibrary.org/obo/HP_0004734 Renal cortical microcysts http://purl.obolibrary.org/obo/HP_0000803 Renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/HP_0004743 Chronic tubulointerstitial nephritis http://purl.obolibrary.org/obo/HP_0001970 Tubulointerstitial nephritis Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/HP_0004746 Glomerular subendothelial electron-dense deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Electron dense deposits at the glomerular basement membrane, http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/HP_0005110 Atrial fibrillation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/HP_0005561 Abnormality of bone marrow cell morphology http://purl.obolibrary.org/obo/HP_0001871 Abnormality of blood and blood-forming tissues An anomaly of the form or number of cells in the bone marrow. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/HP_0005562 Multiple renal cysts http://purl.obolibrary.org/obo/HP_0000107 Renal cyst The presence of many cysts in the kidney. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/HP_0005563 Decreased numbers of nephrons http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology A reduction in the count of nephrons per kidney. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/HP_0005564 Absence of renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/HP_0005574 Non-acidotic proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/HP_0005575 Hemolytic-uremic syndrome http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/HP_0005576 Tubulointerstitial fibrosis http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0005579 Impaired renal tubular reabsorption of chloride http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Any impairment of reabsorption of chloride by the kidney. http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0005580 Duplication of renal pelvis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology A duplication of the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/HP_0005583 Tubular basement membrane disintegration http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology DIsruption and breaking up of the basement membrane of the tubules of the kidney. http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/HP_0005932 Abnormal renal corticomedullary differentiation http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/HP_0006732 Papillary renal cell carcinoma type 2 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/HP_0006735 Renal cortical adenoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of an adenoma in the cortex of the kidney. http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/HP_0006762 Renal pelvic carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm The presence of a carcinoma in the renal pelvis. http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma The presence of renal cell carcinoma in the renal papilla. http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/HP_0006770 Clear cell renal cell carcinoma http://purl.obolibrary.org/obo/HP_0005584 Renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/HP_0006772 Renal angiomyolipoma http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract http://purl.obolibrary.org/obo/HP_0011793 Neoplasm by anatomical site A tumor (abnormal growth of tissue) of the genitourinary system. http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy http://purl.obolibrary.org/obo/HP_0004327 Abnormal vitreous humor morphology Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/HP_0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye http://purl.obolibrary.org/obo/HP_0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/HP_0008327 Microscopic nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/HP_0008653 Crescentic glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/HP_0008659 Multiple small medullary renal cysts http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology The presence of many cysts in the medulla of the kidney. http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/HP_0008660 Renotubular dysgenesis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology A developmental defect characterized by absence or poor development of proximal renal tubules. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0008663 Renal sarcoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A sarcoma of the kidney. http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0008677 Congenital nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome Nephrotic syndrome with onset within the first three months of life. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://purl.obolibrary.org/obo/HP_0008682 Renal tubular epithelial necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://purl.obolibrary.org/obo/HP_0008696 Renal hamartoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A disordered proliferation of mature tissues that are native to the kidneys. http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/HP_0008717 Unilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A unilateral form of atrophy of the kidney. http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0008718 Unilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A unilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/HP_0008738 Partially duplicated kidney http://purl.obolibrary.org/obo/HP_0000075 Renal duplication The presence of a partially duplicated kidney. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm The presence of a neoplasm of the kidney. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/HP_0009741 Nephrosclerosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/HP_0009743 Distichiasis http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes Double rows of eyelashes. http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://purl.obolibrary.org/obo/HP_0010307 Stridor http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase http://purl.obolibrary.org/obo/HP_0003155 Elevated circulating alkaline phosphatase concentration An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/HP_0010680 Elevated alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0010679 Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://purl.obolibrary.org/obo/HP_0010685 Low alkaline phosphatase of renal origin http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0010741 Edema of the lower limbs http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal accumulation of fluid beneath the skin of the legs. http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0010786 Urinary tract neoplasm http://purl.obolibrary.org/obo/HP_0007379 Neoplasm of the genitourinary tract The presence of a neoplasm of the urinary system. http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/HP_0010927 Abnormal blood inorganic cation concentration http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration An abnormality of divalent inorganic cation homeostasis. http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/HP_0010929 Abnormal blood cation concentration http://purl.obolibrary.org/obo/HP_0003111 Abnormal blood ion concentration An abnormality of cation homeostasis. http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An abnormality of the renal pelvis. http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0010958 Bilateral renal agenesis http://purl.obolibrary.org/obo/HP_0000104 Renal agenesis A bilateral form of agenesis of the kidney. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system An abnormality of the gastrointestinal tract. http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology An abnormality of blood circulation. http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An altered ability of the kidneys to void urine and/or specific substances. http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output http://purl.obolibrary.org/obo/HP_0012590 Abnormal urine output A decreased rate of urine production. http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/HP_0011126 Nephroptosis http://purl.obolibrary.org/obo/HP_0100542 Abnormal localization of kidney A significant descent of the kidney as the patient moves from the supine to the erect position. http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis A bilateral form of fetal pyelectasis. http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0011282 Abnormality of hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormality of brain morphology An abnormality of the hindbrain, also known as the rhombencephalon. http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0011545 Abnormal connection of the cardiac segments http://purl.obolibrary.org/obo/HP_0001627 Abnormal heart morphology A deviance in the normal connections between two cardiac segements. http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0011795 Intralobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/HP_0011796 Perilobar nephroblastomatosis http://purl.obolibrary.org/obo/HP_0008643 Nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/HP_0011797 Papillary renal cell carcinoma type 1 http://purl.obolibrary.org/obo/HP_0006766 Papillary renal cell carcinoma A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0011798 Renal oncocytoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/HP_0011962 Obstructive azoospermia http://purl.obolibrary.org/obo/HP_0000027 Azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/HP_0012093 Abnormality of endocrine pancreas physiology http://purl.obolibrary.org/obo/HP_0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/HP_0012213 Decreased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0012214 Increased glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/HP_0012375 Chemosis http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality Edema (swelling) of the bulbar conjunctiva. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/HP_0012379 Abnormal circulating enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/HP_0012408 Medullary nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/HP_0012409 Cortical nephrocalcinosis http://purl.obolibrary.org/obo/HP_0000121 Nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/HP_0012531 Pain http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/HP_0012573 Global proximal tubulopathy http://purl.obolibrary.org/obo/HP_0000114 Proximal tubulopathy A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/HP_0012574 Mesangial hypercellularity http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/HP_0012576 Glomerular C3 deposition http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits The presence of complement 3 deposits in the glomerulus. http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/HP_0012577 Thin glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/HP_0012578 Membranous nephropathy http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/HP_0012579 Minimal change glomerulonephritis http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/HP_0012580 Calcium phosphate nephrolithiasis http://purl.obolibrary.org/obo/HP_0004724 Calcium nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/HP_0012581 Simple renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst An isolated cyst of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/HP_0012582 Bilateral renal dysplasia http://purl.obolibrary.org/obo/HP_0000110 Renal dysplasia A bilateral form of developmental dysplasia of the kidney. http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/HP_0012583 Unilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia One sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/HP_0012584 Bilateral renal hypoplasia http://purl.obolibrary.org/obo/HP_0000089 Renal hypoplasia Two sided hypoplasia of the kidney. http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/HP_0012586 Bilateral renal atrophy http://purl.obolibrary.org/obo/HP_0012585 Renal atrophy A two-sided form of atrophy of the kidney. http://purl.obolibrary.org/obo/HP_0012587 Macroscopic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/HP_0012588 Steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. http://purl.obolibrary.org/obo/HP_0012589 Multidrug-resistant nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. http://purl.obolibrary.org/obo/HP_0012623 Stage 1 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/HP_0012624 Stage 2 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/HP_0012625 Stage 3 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/HP_0012626 Stage 4 chronic kidney disease http://purl.obolibrary.org/obo/HP_0012622 Chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/HP_0012637 Renal calcium wasting http://purl.obolibrary.org/obo/HP_0011280 Abnormality of urine calcium concentration High urine calcium in the presence of hypocalcemia. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/HP_0012735 Cough http://purl.obolibrary.org/obo/HP_0002795 Functional respiratory abnormality A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism An anomaly in the metabolism of a vitamin. http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/HP_0100519 Anuria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Absence of urine, clinically classified as below 50ml/day. http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/HP_0100520 Oliguria http://purl.obolibrary.org/obo/HP_0011037 Decreased urine output Low output of urine, clinically classified as an output below 300-500ml/day. http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0100581 Dilatation of renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/HP_0100611 Multiple glomerular cysts http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0100817 Renovascular hypertension http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The presence of hypertension related to stenosis of the renal artery. http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/HP_0100820 Glomerulopathy http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/HP_0100881 Congenital mesoblastic nephroma http://purl.obolibrary.org/obo/HP_0011794 Embryonal renal neoplasm Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0000000 processual entity http://purl.obolibrary.org/obo/BFO_0000003 occurrent An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster the clusters of hormone-producing cells that are scattered throughout the pancreas http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/UBERON_0000015 non-material anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision Major subdivision of an organism that protrudes from the body[DOS, CARO]. http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/UBERON_0000043 tendon http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue Dense regular connective tissue that connects muscle to bone[VSAO]. http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ A biological tissue mass, most commonly a mass of nerve cell bodies. http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0000047 simple eye http://purl.obolibrary.org/obo/UBERON_0000970 eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit A tubular structure that contains, conveys body fluid, such as blood or lymph. http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A tubular structure that transports secreted or excreted substances. http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A multicellular structure that is a part of an organ. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/UBERON_0000066 fully formed stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/UBERON_0000067 embryo stage part http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that is part of the embryo stage. http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/UBERON_0000068 embryo stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/UBERON_0000071 death stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage End of the life of an organism. http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube An section of a respiratory tract. http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/UBERON_0000077 mixed endoderm/mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/UBERON_0000081 metanephros http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/UBERON_0000085 morula http://purl.obolibrary.org/obo/UBERON_0000922 embryo A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000086 zona pellucida http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A mass of cells that develop into the body of the embryo and some extraembryonic tissues http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/UBERON_0000092 post-embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Stage succeeding embryo, including mature structure. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0000104 life cycle http://purl.obolibrary.org/obo/UBERON_0000000 processual entity An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/UBERON_0000000 processual entity A spatiotemporal region encompassing some part of the life cycle of an organism. http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0000106 zygote stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/UBERON_0000107 cleavage stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000108 blastula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/UBERON_0000109 gastrula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0000110 neurula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0000111 organogenesis stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/UBERON_0000113 post-juvenile adult stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage The stage of being a sexually mature adult animal. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/UBERON_0000118 lung bud http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium Structure derived from foregut that becomes a lung[GO]. http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0000125 neural nucleus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/UBERON_0000162 cloaca http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/UBERON_0000163 embryonic cloaca http://purl.obolibrary.org/obo/UBERON_0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/UBERON_0000166 oral opening http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The orifice that connects the mouth to the exterior of the body. http://purl.obolibrary.org/obo/UBERON_0000170 pair of lungs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection The pair of anatomical structures comprised of a left lung and right lung. http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/UBERON_0000174 excreta http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0000307 blastula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine A mucosa that is part of a duodenum [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/UBERON_0000328 gut wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The inner portion of the kidney consisting of the renal pyramids. http://purl.obolibrary.org/obo/UBERON_0000365 urothelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. http://purl.obolibrary.org/obo/UBERON_0000383 musculature of body http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are serous secreting cells. http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland A gland in which the principal secretory cells are mucus secreting cells. http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland http://purl.obolibrary.org/obo/UBERON_0000463 organism substance A portion of organism substance that is produced by exocrine glands. http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has mass. http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity Anatomical entity that has no mass. http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that is an individual member of a species and consists of more than one cell. http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure Multi-tissue structure that is part of a compound organ. http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group Anatomical group whose component anatomical structures lie in close proximity to each other. http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ Compound organ that contains one or more macroscopic anatomical spaces. http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000912 mucus http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/UBERON_0000922 embryo http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer The middle germ layer of the embryo, between the endoderm and ectoderm. http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0000930 stomodeum http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/UBERON_0000931 proctodeum http://purl.obolibrary.org/obo/UBERON_0016566 pit Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue Any thin layer or plate. http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component Middle part of an organ, surrounded by the cortex. http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/UBERON_0000993 oviduct http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure A tube or collection of tubes in an animal from the ovaries to the outside of the body. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit An airway through which respiratory air passes in organisms. http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0001015 musculature http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A subdivision of the muscular system corresponding to a subdisivision of an organism. http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/UBERON_0001019 nerve fasciculus http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/UBERON_0001041 foregut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Anterior subdivision of a digestive tract. http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx http://purl.obolibrary.org/obo/UBERON_0006562 pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://purl.obolibrary.org/obo/UBERON_0001045 midgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001046 hindgut http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The caudalmost subdivision of a digestive tract. http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001049 neural tube http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/UBERON_0001062 anatomical entity http://purl.obolibrary.org/obo/BFO_0000040 material entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/UBERON_0001064 ventral pancreatic duct http://purl.obolibrary.org/obo/UBERON_0000025 tube A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava http://purl.obolibrary.org/obo/UBERON_0004087 vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/UBERON_0001088 urine http://purl.obolibrary.org/obo/UBERON_0000174 excreta Excretion that is the output of a kidney. http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001114 right lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001115 left lobe of liver http://purl.obolibrary.org/obo/UBERON_0001113 lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001137 dorsum http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/UBERON_0001140 renal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach http://purl.obolibrary.org/obo/UBERON_0000328 gut wall the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001168 wall of small intestine http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001171 portal lobule http://purl.obolibrary.org/obo/UBERON_0009911 lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/UBERON_0001172 hepatic acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies the liver. http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa The mucosal layer that lines the stomach. http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/UBERON_0001202 pyloric sphincter http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa A mucosa that is part of a small intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney http://purl.obolibrary.org/obo/UBERON_0001851 cortex Outer cortical portion of the kidney, between the renal capsule and the renal medulla. http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0001228 renal papilla http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Tip of renal pyramid projecting into a minor calyx. http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/UBERON_0001229 renal corpuscle http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/UBERON_0001230 glomerular capsule http://purl.obolibrary.org/obo/UBERON_0000064 organ part A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule An epithelial tube that is part of the nephron, the functional part of the kidney. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa Mucosal layer that lines the intestine. http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001256 wall of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure An anatomical wall that lines the insider of a urinary bladder. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure the mucous membrane lining the urinary bladder http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/UBERON_0001262 wall of intestine http://purl.obolibrary.org/obo/UBERON_0000328 gut wall An anatomical wall that is part of a intestine [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/UBERON_0001271 pelvic girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium The epithelial layer of the stomach . http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001279 portal triad http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0001280 liver parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The functional units of the liver including the lobules. http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001285 nephron http://purl.obolibrary.org/obo/UBERON_0000064 organ part The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/UBERON_0001286 Bowman's space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/UBERON_0001293 outer medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001294 inner medulla of kidney http://purl.obolibrary.org/obo/UBERON_0000064 organ part Innermost region of the mammalian kidney. http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/UBERON_0001353 anal region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anus and surrounding regions. Encompasses both internal and external regions, where present. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/UBERON_0001421 pectoral girdle region http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/UBERON_0001443 chest http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element Skeletal element that is composed of bone tissue. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/UBERON_0001484 articular capsule http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://purl.obolibrary.org/obo/UBERON_0001514 descending aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A tube extending from the mouth to the anus. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Subdivision of urinary system which consists of the urinary bladder and the urethra. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/UBERON_0001710 lower jaw region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion the groups of nerve cell bodies associated with the twelve cranial nerves http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/UBERON_0001751 dentine http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001773 sclera http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/UBERON_0001781 layer of retina http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer Any of the layers that make up the retina[MP]. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/UBERON_0001799 vitreous chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/UBERON_0001801 anterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/UBERON_0001802 posterior segment of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part Outermost layer of an organ[WP]. http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/UBERON_0001866 sebum http://purl.obolibrary.org/obo/UBERON_0000456 secretion of exocrine gland Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/UBERON_0001890 forebrain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain The most anterior region the brain including both the telencephalon and diencephalon. http://purl.obolibrary.org/obo/UBERON_0001891 midbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/UBERON_0001895 metencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium An endothelium that is part of a capillary [Automatically generated definition]. http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium An endothelium that is part of an artery [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/UBERON_0001943 midbrain tegmentum http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid The liquid component of blood, in which erythrocytes are suspended. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/UBERON_0001970 bile http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/UBERON_0001979 venule http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/UBERON_0001980 arteriole http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel The smallest division of the artery located between the muscular arteries and the capillaries[GO]. http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A vessel through which blood circulates in the body. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/UBERON_0001986 endothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue A tiny smooth muscle that connects the hair follicle with the dermis. http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anatomical structure that is part of an embryo. http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/UBERON_0002078 right cardiac atrium http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber in which blood enters the heart. http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Cardiac chamber through which blood leaves the heart. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/UBERON_0002084 heart left ventricle http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber A cardiac ventricle that is in the left side of the heart. http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The organ covering the body that consists of the dermis and epidermis. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/UBERON_0002100 trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/UBERON_0002104 visual system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system The sensory system subserving the sense of vision. http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/UBERON_0002120 pronephros http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/UBERON_0002167 right lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://purl.obolibrary.org/obo/UBERON_0002168 left lung http://purl.obolibrary.org/obo/UBERON_0002048 lung Lung which consists of the left upper lobe and left lower lobe.[FMA] http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/UBERON_0002199 integument http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The dermis, epidermis and hypodermis. http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature Vasculature that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Vasculature that is part of the eye region. http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/UBERON_0002294 biliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/UBERON_0002303 juxtaglomerular apparatus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/UBERON_0002316 white matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0002319 mesangium http://purl.obolibrary.org/obo/UBERON_0000119 cell layer The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/UBERON_0002320 glomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/UBERON_0002321 extraglomerular mesangium http://purl.obolibrary.org/obo/UBERON_0003891 stroma The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/UBERON_0002323 coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0002328 notochord http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0002329 somite http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk http://purl.obolibrary.org/obo/UBERON_0001637 artery An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/UBERON_0002335 macula densa http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/UBERON_0002342 neural crest http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Embryonic ectoderm that gives rise to nervous tissue. http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0002355 pelvic region of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest Membrane organ that surrounds the brain and the spinal cord. http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/UBERON_0002417 abdominal segment of trunk http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis The abdominal segment of the torso. http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa A gland that is part of a skin of body [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the digestive system that contains the liver and the biliary system http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0002472 stylopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The proximal free limb segment. Includes as parts the stylopod skeleton. http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element Replacement bone that forms within cartilage. http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/UBERON_0002521 elastic tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue composed of elastic fibers. http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/UBERON_0002522 tunica media http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer The middle layer of an artery or vein. [WP,unvetted]. http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ that functions as a secretory or excretory organ. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0003052 midbrain-hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/UBERON_0003055 periderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0003056 pre-chordal neural plate http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The portion of neural plate anterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The portion of neural plate posterior to the mid-hindbrain junction. http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/UBERON_0003061 blood island http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/UBERON_0003072 optic cup http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/UBERON_0003073 lens placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/UBERON_0003075 neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0003082 myotome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/UBERON_0003089 sclerotome http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/UBERON_0003100 female organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce female gametes. http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/UBERON_0003101 male organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism Gonochoristic organism that can produce male gametes. http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://purl.obolibrary.org/obo/UBERON_0003113 dermatocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/UBERON_0003123 pharyngeal arch artery 6 http://purl.obolibrary.org/obo/UBERON_0004363 pharyngeal arch artery The vessels formed within the sixth pair of branchial arches in embryogenesis http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane the outermost extraembryonic membrane http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/UBERON_0003128 cranium http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Upper portion of the skull that excludes the mandible (when present in the organism). http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium An endoderm that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme A mesenchyme that is part of a chorion. http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/UBERON_0003278 skeleton of lower jaw http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract A gland that is part of a foregut [Automatically generated definition]. http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland Racemose mucous glands beneath the mucous membrane of the pharynx. http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a integumental system [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme Mesenchyme that is part of a developing camera-type eye. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A layer of epithelial cells on the surface of the mucosa. http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a pharynx [Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/UBERON_0003374 chorionic ectoderm http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A extraembryonic structure that develops_from a ectoderm and is part of a chorion. http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A gland that is part of a digestive tract [Automatically generated definition]. http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel An artery that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel A vein that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel A blood vessel that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel A capillary that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter A gray matter that is part of a brain [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter http://purl.obolibrary.org/obo/UBERON_0002316 white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/UBERON_0003566 head connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone A long bone that is part of a limb [Automatically generated definition]. http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/UBERON_0003657 limb joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Any joint that is part of a (free) limb. http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/UBERON_0003672 dentition http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/UBERON_0003714 neural tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone A bone of the metapodial skeleton http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint A limb joint that is part of an autopod [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/UBERON_0003842 neural tube lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a neural tube. http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest http://purl.obolibrary.org/obo/UBERON_0002342 neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a ganglion. http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://purl.obolibrary.org/obo/UBERON_0003886 future coelemic cavity lumen http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that has the potential to develop into a coelemic cavity lumen. http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/UBERON_0003890 Mullerian duct http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/UBERON_0003891 stroma http://purl.obolibrary.org/obo/UBERON_0000064 organ part Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure The part of the retina that contains neurons and photoreceptor cells[GO]. http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/UBERON_0003918 kidney mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel A blood vessel that carries blood from the capillaries toward the heart. http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure embryonic structure that develops into pancreatic bud. http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic epithelial bud pancreatic bud that gives rise to the major pancreatic duct. http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that lines the lumen of the digestive tract. http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0003931 diencephalic white matter http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain White matter that is part of a diencephalon [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0003975 internal female genitalia http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/UBERON_0003984 uterine tube infundibulum http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct The funnel-like expansion of the abdominal extremity of the uterine tube[MP] http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/UBERON_0004016 dermatome http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0004058 biliary ductule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/UBERON_0004062 neural tube marginal layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any tube, opening or passage that connects two distinct anatomical spaces. http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the endoderm. http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the mesoderm. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that develops (entirely or partially) from the ectoderm. http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/UBERON_0004128 optic vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The first recognizable structure derived from the heart field. http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. http://purl.obolibrary.org/obo/UBERON_0004141 heart tube http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelial tube that will give rise to the mature heart. http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The outflow tract is the portion of the heart through which blood flows into the arteries. http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A cardiac chamber surrounds an enclosed cavity within the heart. http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/UBERON_0004161 septum transversum http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/UBERON_0004175 internal genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ The external genitalia are the outer sex organs, such as the penis or vulva in mammals. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ that is part of the hematopoietic system. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/UBERON_0004185 endodermal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract A portions of the gut that is derived from endoderm. http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/UBERON_0004198 comma-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/UBERON_0004199 S-shaped body http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/UBERON_0004200 kidney pyramid http://purl.obolibrary.org/obo/UBERON_0000064 organ part Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/UBERON_0004201 kidney outer medulla inner stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/UBERON_0004202 kidney outer medulla outer stripe http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/UBERON_0004204 outer medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/UBERON_0004205 inner medullary collecting duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/UBERON_0004208 nephrogenic mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The nephron epithelium is a tissue that covers the surface of a nephron. http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue The smooth muscle tissue surrounding the urothelium of the kidney pelvis. http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue smooth muscle found within, and composing the majority of the wall of blood vessels. http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A muscle that is part of the eye region. http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/UBERON_0004288 skeleton http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure The bilaminar epithelium formed from the myotome and dermatome. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium An endothelium that is part of a glomerular capillary. http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Distal-most phalanx within a digit. http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx A phalanx located between proximal and distal phalanges. http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx http://purl.obolibrary.org/obo/UBERON_0003221 phalanx Proximal-most phalanx within a digit. http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/UBERON_0004340 allantois http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/UBERON_0004347 limb bud http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic structure that gives rise to the corneal ectoderm http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex A bone that is part of an appendage [Automatically generated definition]. http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/UBERON_0004381 skeleton of limb http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton The collection of all skeletal elements in an individual limb. http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system Sum of all sensory systems in an organism. http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature A projection or outgrowth of tissue from a larger body or organ. http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vascular network consisting of blood vessels. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0004572 arterial system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all arteries. http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0004582 venous system http://purl.obolibrary.org/obo/UBERON_0007798 vascular system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/UBERON_0004590 sphincter muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The epithelial lining of the luminal space of the urinary bladder. http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/UBERON_0004647 liver lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://purl.obolibrary.org/obo/UBERON_0004707 pharyngula stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0000026 appendage An appendage that is part of an appendage girdle complex. http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/UBERON_0004716 conceptus http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta http://purl.obolibrary.org/obo/UBERON_0001140 renal vein In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/UBERON_0004732 segmental subdivision of nervous system http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An organ subunit that is part of a hindbrain [Automatically generated definition]. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/UBERON_0004734 gastrula http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the gastrula stage. http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/UBERON_0004770 articular system http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection Anatomical system that consists of all the joints of the body. http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A mucosa that is part of a gastrointestinal system. http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium The epithelial lining of the luminal space of the kidney pelvis. http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/UBERON_0004797 blood vessel layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a oviduct [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is part of a digestive system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The cellular avascular layer of the renal tubule luminar surfaces. http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The cellular avascular layer of the kidney luminar surfaces. http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium http://purl.obolibrary.org/obo/UBERON_0001986 endothelium An endothelium that is part of the cardiovascular system. http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina A vasculature that is part of a retina [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A portion of the urogenital ridge which is the source of much of the urinary system[WP]. http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The central region of trunk mesoderm. This tissue forms the notochord. http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/UBERON_0004914 duodenal papilla http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A proximal-distal subdivision of the digestive tract. http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part A part of a wall of an organ that forms a layer. http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach A mucosa that is part of a pylorus [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland A gland that is part of a hemolymphoid system [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/UBERON_0005061 neural groove http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/UBERON_0005062 neural fold http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure One of the two elevated edges of the neural groove[GO,MP]. http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/UBERON_0005068 neural rod http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Missing definition for term UBERON:0005095. Please replace it using linked reference. http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/UBERON_0005096 descending thin limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/UBERON_0005110 metanephric nephron http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure A metanephric nephron is the functional unit of the metanephros[GO]. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold A bud is a protrusion that forms from an epithelial sheet by localized folding. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure Any anatomical structure that is part of the reproductive system. http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelial sheet bent on a linear axis. http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/UBERON_0005167 papillary duct http://purl.obolibrary.org/obo/UBERON_0001232 collecting duct of renal tubule The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue http://purl.obolibrary.org/obo/UBERON_0003891 stroma Connective tissue between the cellular elements of a structure. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/UBERON_0005176 tooth enamel organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/UBERON_0005185 renal medulla collecting duct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The portion of the collecting duct that resides in the renal medulla. http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium Tissue surrounding the loop of Henle in the renal medulla. http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/UBERON_0005213 outer renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/UBERON_0005214 inner renal medulla interstitium http://purl.obolibrary.org/obo/UBERON_0005211 renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium http://purl.obolibrary.org/obo/UBERON_0005169 interstitial tissue The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Mesenchyme that is part of a developing trunk. http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel An artery that supplies the renal cortex. http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel Artery that receives blood from the renal cortex[MP, modified]. http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/UBERON_0005270 renal cortex interstitium http://purl.obolibrary.org/obo/UBERON_0005215 kidney interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0005271 juxtamedullary cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part The part of the renal cortex nearest to the medulla. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/UBERON_0005290 myelencephalon http://purl.obolibrary.org/obo/UBERON_0004733 segmental subdivision of hindbrain The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure A portion of tissue that is part of an embryo. http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/UBERON_0005309 pronephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A pronephric nephron is the functional unit of the pronephros[GO]. http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium The endothelial lining of the endocardium. http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://purl.obolibrary.org/obo/UBERON_0005322 mesonephric nephron http://purl.obolibrary.org/obo/UBERON_0001285 nephron A nephron that is part of a mesonephros. http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0005323 mesonephric mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An array of photoreceptors and any supporting cells found in an eye. http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina http://purl.obolibrary.org/obo/UBERON_0010312 immature eye Portion of tissue that is the inner layer of the optic cup and will become the neural retina. http://purl.obolibrary.org/obo/UBERON_0005426 lens vesicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Portion of tissue that gives rise to the lens. http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0005428 vagal neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0005498 primitive heart tube http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Multi-tissue structure that arises from the heart rudiment and will become the heart tube. http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium Portion of tissue that gives rise to the immature gonad. http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardial valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A mesoderm that has the potential to develop into a pronephros. http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue . http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field http://purl.obolibrary.org/obo/UBERON_0007688 anlage A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/UBERON_0005733 limb field http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field A ring of cells capable of forming a limb. http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/UBERON_0005734 tunica adventitia of blood vessel http://purl.obolibrary.org/obo/UBERON_0005742 adventitia The outermost layer of a blood vessel, composed mainly of fibrous tissue. http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/UBERON_0005742 adventitia http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer An outermost connective tissue covering of an organ, vessel, or other structure[WP]. http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/UBERON_0005749 glomerular tuft http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The capillary loops of the kidney that normally function as a filtration unit[MP]. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/UBERON_0005751 glomerular visceral epithelium http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure An acellular anatomical structure that is the bounding layer of a anatomical structure. http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium http://purl.obolibrary.org/obo/UBERON_0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane http://purl.obolibrary.org/obo/UBERON_0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/UBERON_0005800 section of aorta http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/UBERON_0005806 portal system http://purl.obolibrary.org/obo/UBERON_0002049 vasculature In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation A delimited region of dense mesenchyme within looser mesenchyme. http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/UBERON_0005863 cartilaginous condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/UBERON_0005866 pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/UBERON_0005906 serous sac http://purl.obolibrary.org/obo/UBERON_0000062 organ Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/UBERON_0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/UBERON_0005956 outflow part of left ventricle http://purl.obolibrary.org/obo/UBERON_0005337 outflow tract of ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/UBERON_0005971 amniotic fold http://purl.obolibrary.org/obo/UBERON_0000478 extraembryonic structure A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer The laminar structure of the heart http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/UBERON_0006135 myelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/UBERON_0006217 cloacal membrane http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/UBERON_0006222 future diencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The foremost region of the future forebrain that develops into the diencephalon. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/UBERON_0006235 foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction An anatomical junctions that overlaps the foregut and midgut. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/UBERON_0006238 future brain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The embryonic precursor of the brain. http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/UBERON_0006240 future forebrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a forebrain. http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/UBERON_0006268 notochordal process http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/UBERON_0006311 chamber of eyeball http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure A segment of the eyeball that is filled with refractive media http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a outer medulla of kidney. http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Missing definition for term UBERON:0006376. Please replace it using linked reference. http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/UBERON_0006517 kidney calyx http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla inner stripe. http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a kidney. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A tube in the kidney that collect and transport urine. http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube A tube that is part of a excretory system. http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into endoderm. http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Portion of embryonic tissue determined by fate mapping to become a structure. http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Presumptive structure of the blastula that will develop into mesoderm. http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint A joint that connects one phalanx to another along a proximodistal axis. http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/UBERON_0006716 mesopodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/UBERON_0006717 autopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in an autopodium region. http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/UBERON_0006742 canthus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that is composed primarily of secretory cells. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/UBERON_0006813 nasal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Structural framework that provides support to the nasal sacs and ducts. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary A peritubular capillary that is part of a cortex of kidney. http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule A region of nephron tubule that is part of a cortex of kidney. http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/UBERON_0006866 terminal part of digestive tract http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature A vasculature that is part of a organ. http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme A head mesenchyme that develops_from a mesoderm. http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/UBERON_0006909 lumen of digestive tract http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space that surrounded_by a digestive tract. http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element Any gland that is part of the digestive system. http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium An epithelium that is part of a uterus. http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/UBERON_0006984 anatomical surface http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/UBERON_0007005 cardiogenic splanchnic mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo http://purl.obolibrary.org/obo/UBERON_0000922 embryo Organism at the cleavage stage. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/UBERON_0007023 adult organism http://purl.obolibrary.org/obo/UBERON_0000468 multicellular organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/UBERON_0007123 pharyngeal pouch 2 http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch A pharyngeal puch that is between the pharyngeal arches 2 and 3. http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/UBERON_0007135 neural keel http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest Mesenchyme that develops_from a cranial neural crest. http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/UBERON_0007220 late embryonic stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/UBERON_0007221 neonate stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Of or pertaining to the period of time immediately following birth, or to the newborn. http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Gray matter of the central nervous system which is a collection of clustered nuclei. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a endocardium. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Embryonic structure that gives rise to the midbrain hindbrain boundary. http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a presomitic mesoderm. http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system A presumptive structure that has the potential to develop into a neural plate. http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The part of the blastula that has the potential to develop into a paraxial mesoderm. http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a pronephric mesoderm. http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ A vasculature that is part of a chordate pharynx. http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/UBERON_0007324 pancreatic lobule http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/UBERON_0007377 stratum compactum http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer of ectoderm http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Outermost layer of cells surrounding the embryo. http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation A neural decussation that is part of a diencephalon. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac http://purl.obolibrary.org/obo/UBERON_0009856 sac An epithelial tube that is open at one end only. http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube An epithelial tube open at both ends that allows fluid flow. http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle http://purl.obolibrary.org/obo/UBERON_0000483 epithelium A closed epithelium with a lumen. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme with little extracellular matrix. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007529 loose mesenchyme tissue http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme Mesenchymal cells that are migrating. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007617 synovial cavity of joint http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity An anatomical cavity that surrounded_by a synovial joint. http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/UBERON_0007645 future meninx http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that connects two structures http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/UBERON_0007687 kidney field http://purl.obolibrary.org/obo/UBERON_0007688 anlage Region of the embryo into the area in which the kidney rudiment will develop. http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/UBERON_0007688 anlage http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum http://purl.obolibrary.org/obo/UBERON_0001048 primordium endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue . http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract An axon tract that is part of a brain. http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002419 skin gland A gland that is part of a epidermis. http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/UBERON_0007779 transudate http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/UBERON_0007794 serous fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid Any fluid produced by a serous gland. http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/UBERON_0007823 appendage girdle region http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/UBERON_0007832 pelvic girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity Skeletal element that is composed of cartilage tissue and may be permanent or transient. http://purl.obolibrary.org/obo/UBERON_0007845 regular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. http://purl.obolibrary.org/obo/UBERON_0007846 dense regular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature http://purl.obolibrary.org/obo/UBERON_0001015 musculature Musculature system of the pharyngeal and head regions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://purl.obolibrary.org/obo/UBERON_0008281 tooth bud http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium An endothelium that is part of a heart [Automatically generated definition]. http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0008814 pharyngeal arch system http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head http://purl.obolibrary.org/obo/UBERON_0000033 head A head that is part of a embryo. http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/UBERON_0008858 pyloric canal http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/UBERON_0008895 splanchnocranium http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system Subdivision of endoskeleton derived from pharyngeal arches http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure A parenchyma that is part of a lung. http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0008987 renal parenchyma http://purl.obolibrary.org/obo/UBERON_0000353 parenchyma The functional tissue of the kidney, consisting of the nephrons. http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism http://purl.obolibrary.org/obo/UBERON_0007023 adult organism An organism containing a developing embryo, fetus, or unborn offspring within the body. http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad http://purl.obolibrary.org/obo/UBERON_0000991 gonad A gonad prior to differentiating into a definitive testis or ovary. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0009142 entire embryonic mesenchyme http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster Sum total of mesenchyme in the embryo. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A nephric duct is a tube that drains a primitive kidney[GO]. http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium An epithelium that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction http://purl.obolibrary.org/obo/UBERON_0000925 endoderm An endoderm that is part of a foregut-midgut junction. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/UBERON_0009551 distal segment of digit http://purl.obolibrary.org/obo/UBERON_0002529 limb segment A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection A nail, hoof or claw. http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A presumptive structure that has the potential to develop into a midbrain. http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme http://purl.obolibrary.org/obo/UBERON_0003104 mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/UBERON_0009751 cardiac mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac Branch or outpocketing of the digestive tract. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/UBERON_0009871 nephrogenic zone http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Outer portion of the renal cortex. Site of formation of medullary and cortical elements. http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/UBERON_0009877 metapodium region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/UBERON_0009878 mesopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery http://purl.obolibrary.org/obo/UBERON_0001637 artery An artery that supplies a renal lobe. http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein http://purl.obolibrary.org/obo/UBERON_0001638 vein The interlobar veins are veins of the renal circulation which drain the renal lobes. http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme Mesenchyme that is part of a developing face. http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit A portion of an organ, such as the liver, lung, breast, or brain. http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/UBERON_0009913 renal lobe http://purl.obolibrary.org/obo/UBERON_0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has more than one cell as a part. http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element An organ of the digestive tract that is capable of retaining and storing food http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/UBERON_0010074 chromaffin system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010083 future dermis http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Mesenchyme that has the potential to develop into a dermis. http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a metencephalon. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure A developing anatomical structure that has the potential to develop into a myelencephalon. http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010161 lumen of blood vessel http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical cavity that surrounded_by a blood vessel. http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/UBERON_0010188 protuberance http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ A roughly circular bulge in a surface. http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0010199 bona-fide anatomical boundary http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity An anatomical boundary that corresponds to some physical discontinuity. http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The core globe-shaped component of the camera-type eye. http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate http://purl.obolibrary.org/obo/UBERON_0002020 gray matter Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/UBERON_0010286 midbrain neural tube http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue Portion of neural tube that gives rise to the midbrain. http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/UBERON_0010312 immature eye http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure Developing anatomical structure that develops into the eyeball and associated structures. http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An anatomical structure that develops from the neural crest. http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure An anatomical structure that has some part that develops from the neural crest. http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0010323 cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme http://purl.obolibrary.org/obo/UBERON_0005292 extraembryonic tissue Mesenchyme that is part of a extraembryonic membrane. http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. http://purl.obolibrary.org/obo/UBERON_0010364 dermal skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Epithelium composed of cells that develops from the ectoderm[FMA,modified]. http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/UBERON_0010377 mesenchyme from somatopleure http://purl.obolibrary.org/obo/UBERON_0007524 dense mesenchyme tissue Mesenchyme that develops_from a somatopleure. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010409 ocular surface region http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/UBERON_0010427 ciliary processes http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube An epithelial tube that is fated to become a nephron. http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron A primitive nephron that is part of a metanephros. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis An appendage segment that is part of a limb/fin. http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/UBERON_0010543 acropodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/UBERON_0010546 metapodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/UBERON_0010702 digit mesenchyme http://purl.obolibrary.org/obo/UBERON_0009749 limb mesenchyme Mesenchyme of the digit region. http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). http://purl.obolibrary.org/obo/UBERON_0010708 pectoral complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010709 pelvic complex http://purl.obolibrary.org/obo/UBERON_0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Skeletal subdivision that is a segment of the limb skeleton. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/UBERON_0010881 limb cartilage element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of cartilage tissue. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010882 limb bone pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A skeletal element that is part of a limb and composed of pre-cartilage tissue. http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ Any muscle organ that is part of either the head or the neck. http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. http://purl.obolibrary.org/obo/UBERON_0011137 axial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011138 postcranial axial skeletal system http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint http://purl.obolibrary.org/obo/UBERON_0003657 limb joint Any synovial joint that is part of a (free) limb. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/UBERON_0011143 upper urinary tract http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Subdivision of urinary system which consists of the kidney and the ureters. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull Subdivision of skull that consists of the facial bones. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/UBERON_0011158 primary subdivision of skull http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system The skull can be divided into two: the neurocranium and the facial skeleton http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011185 gastrointestinal sphincter http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element A sphincter muscle that is part of the gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure A multi cell part structure that is part of a central nervous system. http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A subdivision of an anatomical system. http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011249 appendicular skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature A blood vasculature that is part of a head. http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011582 paired limb/fin skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in an individual limb or fin. http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011583 stylopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011584 zeugopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision Section of the forelimb skeleton located between the stylopodium and the autopodium. http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011585 cell condensation http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). http://purl.obolibrary.org/obo/UBERON_0011587 pre-dentine http://purl.obolibrary.org/obo/UBERON_0010365 odontoid tissue Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain An axon tract that is part of a diencephalon. http://purl.obolibrary.org/obo/UBERON_0011595 jaw region http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system A cardiovascular system that is part of a conceptus. http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve A nerve that is part of a head. http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus An acinus that is part of a exocrine gland. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/UBERON_0011899 epimysium http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/UBERON_0011953 stomach glandular region http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach A region of the stomach that is lined with glandular epithelium. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/UBERON_0011997 coelom http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/UBERON_0012140 digitopodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/UBERON_0012150 skeleton of digitopodium http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery An artery that originates from the abdominal aorta http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure Epithelium that derives from the mesoderm. [Automatically generated definition]. http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/UBERON_0012292 embryonic cloacal fold http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure One of five swellings formed during the development of the face http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/UBERON_0012354 acropodium region http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod The segment of the autopod that is distal to the metapodial region and consists of the digits. http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue Blood-forming tissue, consisting of reticular fibers and cells. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/UBERON_0012430 tunica fibrosa of eyeball http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium An endothelium that is part of a peritubular capillary. http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space with no opening to another space or to the exterior. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/UBERON_0012475 skeleton of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/UBERON_0012476 skeleton of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel A vein that is part of a abdomen. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0013232 serous acinus http://purl.obolibrary.org/obo/UBERON_0011858 acinus of exocrine gland The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure The precursor of the urethra. http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/UBERON_0013514 space surrounding organism http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space The space that surrounds an organism. http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube A section through the tube or network of tubes that connects the ovaries to the outside of the body. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/UBERON_0013686 anatomical conduit space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/UBERON_0013701 main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/UBERON_0013702 body proper http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision The region of the organism associated with the visceral organs. http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa Anatomical projection that is part of the integumentl system. http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer A organ component layer that is part of a integumental system. http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/UBERON_0013756 venous blood http://purl.obolibrary.org/obo/UBERON_0000178 blood A blood that is part of a vein. http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/UBERON_0014387 mesenchyme derived from neural crest http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure Mesenchyme that develops_from the neural crest[Automatically generated definition]. http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0014477 thoracic skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/UBERON_0014716 interlobular duct http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/UBERON_0014719 intralobular duct http://purl.obolibrary.org/obo/UBERON_0000058 duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature http://purl.obolibrary.org/obo/UBERON_0001048 primordium A portion of tissue that will develop into vasculature. http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element A limb bone or its cartilage or pre-cartilage precursor. http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element A endochondral element that is part of a autopod region. http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group An anatomical group whose component structures share a common function. http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure Any structure that is placed on one side of the left-right axis of a bilaterian. http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium A epithelium that is part of a camera-type eye. http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium An epithelium that is part of a foregut. http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region An roughly circular indentation in a surface. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the central nervous system. http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure Primordium that develops into the nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/UBERON_0016887 entire extraembryonic component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/UBERON_0016888 transitional anatomical structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0017650 developing mesenchymal structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element A viscus that is part of a abdomen. http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0018685 nursing stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage A mammalian developmental stage that covers the period from birth until weaning. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest The part of the eye that consists of both the retina and the optic choroid http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0019261 white matter of forebrain http://purl.obolibrary.org/obo/UBERON_0003544 brain white matter A white matter that is part of the forebrain. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system An exocrine gland that is part of a integumental system. http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity An embryonic or larval epithelium that is committed to form part of the nervous system. http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas http://purl.obolibrary.org/obo/UBERON_0000463 organism substance Any substance in the body or expelled from the body that is in a gaseous state. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0034874 air in respiratory system http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure the area of axial mesoderm that develops into the prechordal plate http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/UBERON_0034920 infant stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage Nursing stage that follows the neonate stage in mammals and ends at weaning. http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure An multicellular anatomical structure that has subparts of multiple organs as a part. http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A cluster of cells, largely surrounded by a morphological boundary. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity A collection of anatomical structures that are alike in terms of their morphology or developmental origin. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system http://purl.obolibrary.org/obo/UBERON_0000483 epithelium The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/UBERON_4000013 mineralized skeletal tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue Skeletal tissue that is mineralized. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/UBERON_5002544 digit plus metapodial segment http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/UBERON_5102544 individual digit of digitopodial skeleton http://purl.obolibrary.org/obo/UBERON_0010712 limb skeleton subdivision A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/PR_000003457 V(D)J recombination-activating protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/PR_000003460 V(D)J recombination-activating protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000003469 early growth response protein 2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000003968 alkaline phosphatase, tissue-nonspecific isozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/PR_000003986 protein AMBP http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/PR_000004580 beta-2-microglobulin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000004604 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/PR_000005178 CD9 molecule http://purl.obolibrary.org/obo/PR_000001403 tetraspanin A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/PR_000005307 CCAAT/enhancer-binding protein alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000005965 cystatin-C http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/PR_000006151 CCN family member 1 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/PR_000006169 cell surface glycoprotein CD200 receptor 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/PR_000006611 DNA nucleotidylexotransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/PR_000007309 fatty acid-binding protein, liver http://purl.obolibrary.org/obo/PR_000000001 protein A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/PR_000007431 high affinity immunoglobulin epsilon receptor subunit alpha http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000007597 protein c-Fos http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/PR_000007636 forkhead box protein N1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/PR_000007857 erythroid transcription factor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/PR_000007858 endothelial transcription factor GATA-2 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/PR_000008453 hepatitis A virus cellular receptor 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://purl.obolibrary.org/obo/PR_000033214 glutathione hydrolase proenzyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P01375 tumor necrosis factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/PR_P04275 von Willebrand factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A von Willebrand factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/PR_P19438 tumor necrosis factor receptor superfamily member 1A (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/PR_A0PJX2 TLD domain-containing protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A TLD domain-containing protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16112 TLDC2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TLDC2 in human. http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/PR_O94788 retinal dehydrogenase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A retinal dehydrogenase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/PR_O95069 potassium channel subfamily K member 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A potassium channel subfamily K member 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_O95156 neurexophilin-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neurexophilin-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/PR_P00738 haptoglobin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A haptoglobin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/PR_P01034 cystatin-C (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cystatin-C that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P01579 interferon gamma (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interferon gamma that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/PR_P01591 immunoglobulin J chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An immunoglobulin J chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/PR_P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P01911 HLA class II histocompatibility antigen, DRB1 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/PR_P02462 collagen alpha-1(IV) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(IV) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/PR_P02760 protein AMBP (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein AMBP that is encoded in the genome of human. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/PR_P04053 DNA nucleotidylexotransferase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA nucleotidylexotransferase that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P04216 Thy-1 membrane glycoprotein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Thy-1 membrane glycoprotein that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10637 CXCL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL10 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11740 TF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TF in human. http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11892 TNF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNF in human. http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 VWF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VWF in human. http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15472 ALDH1A2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ALDH1A2 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2202 COL4A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL4A1 in human. http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2475 CST3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CST3 in human. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3229 EGF (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene EGF in human. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=333 AGT (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AGT in human. http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4261 GH1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GH1 in human. http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=453 AMBP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene AMBP in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5141 HP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HP in human. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5438 IFNG (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IFNG in human. http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5713 JCHAIN (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene JCHAIN in human. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6277 KCNK2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KCNK2 in human. http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8076 NXPH2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NXPH2 in human. http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9922 RBP4 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RBP4 in human. http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P05019 insulin-like growth factor I (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An insulin-like growth factor I that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/PR_P05089 arginase-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An arginase-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://purl.obolibrary.org/obo/PR_P05164 myeloperoxidase (human) http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase A myeloperoxidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/PR_P06127 T-cell surface glycoprotein CD5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/PR_P07148 fatty acid-binding protein, liver (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A fatty acid-binding protein, liver that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/PR_P07911 uromodulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A uromodulin that is encoded in the genome of human. http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12559 UMOD (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene UMOD in human. http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3555 FABP1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FABP1 in human. http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5464 IGF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IGF1 in human. http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6018 IL6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL6 in human. http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7166 MMP2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP2 in human. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7174 MMP7 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MMP7 in human. http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/PR_P34810 macrosialin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrosialin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/PR_P35348 alpha-1A adrenergic receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-1A adrenergic receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=277 ADRA1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADRA1A in human. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/PR_P41134 DNA-binding protein inhibitor ID-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/PR_P41597 C-C chemokine receptor type 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P43235 cathepsin K (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cathepsin K that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P47736 Rap1 GTPase-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1514 CASR (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CASR in human. http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5360 ID1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ID1 in human. http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9858 RAP1GAP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RAP1GAP in human. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/PR_Q02548 paired box protein Pax-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A paired box protein PAX-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2193 COL16A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL16A1 in human. http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/PR_Q96D42 hepatitis A virus cellular receptor 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17866 HAVCR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HAVCR1 in human. http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/DRON_00000028 active ingredient http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/DRON_00000030 role of scattered molecular aggregate http://purl.obolibrary.org/obo/BFO_0000023 role a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/DRON_00000031 drug administration http://purl.obolibrary.org/obo/OGMS_0000090 treatment a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/OGMS_0000060 bodily process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which at least one bodily component of an organsim participates. http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/OGMS_0000061 pathological bodily process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/GAZ_00000013 continent http://purl.obolibrary.org/obo/GAZ_00000448 geographic location One of the large, unbroken masses of land into which the Earth's surface is divided. http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/GAZ_00000460 Eurasia http://purl.obolibrary.org/obo/GAZ_00000013 continent The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/GAZ_00002459 United States of America http://purl.obolibrary.org/obo/GAZ_00000448 geographic location A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0030669 Abnormal ocular adnexa morphology http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/OAE_0002678 fetal death AE http://purl.obolibrary.org/obo/OAE_0000632 death AE a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/SO_0001026 genome http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A genome is the sum of genetic material within a cell or virion. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology An abnormal functionality of the male genital system. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea http://purl.obolibrary.org/obo/HP_0002014 Diarrhea Passage of many stools containing blood. http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://purl.obolibrary.org/obo/HP_0030082 Abnormal drinking behavior http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology Abnormality of vascular function. http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system Any structural anomaly of the heart and great vessels. http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology An abnormal accumulation of protein in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/HP_0040084 Abnormal circulating renin http://purl.obolibrary.org/obo/HP_0000847 Abnormality of renin-angiotensin system A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MPATH_184 sclerosis http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement Any pathological thickening or hardening of a tissue. http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/MPATH_197 glomerulonephritis http://purl.obolibrary.org/obo/MPATH_212 inflammation Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/MPATH_28 atherosclerosis http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/MPATH_36 calcium deposition http://purl.obolibrary.org/obo/MPATH_555 mineralisation Intra or extracellular deposition of calcium usually as calcium phosphate. http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/MPATH_608 abscess http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/MPATH_62 cyst http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect Formation of an epithelium bounded cavity not associated with neoplasia. http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/MPATH_74 hamartoma http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/VO_0000807 toxoid vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role a vaccine role that indicates the vaccine being a toxoid vaccine. http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001507 variant_collection A deviation in chromosome structure or number. http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/SO_0001506 variant_genome http://purl.obolibrary.org/obo/SO_0001026 genome A collection of sequences (often chromosomes) of an individual. http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/SO_0001507 variant_collection http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of one or more sequences of an individual. http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute http://purl.obolibrary.org/obo/SO_0000733 feature_attribute An attribute of alteration of one or more chromosomes. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute http://purl.obolibrary.org/obo/SO_0001508 alteration_attribute An attribute of a change in the structure or number of a chromosomes. http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/SO_0001510 intrachromosomal http://purl.obolibrary.org/obo/SO_0001509 chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/SO_0001524 chromosomally_aberrant_genome http://purl.obolibrary.org/obo/SO_0001506 variant_genome When a genome contains an abnormal amount of chromosomes. http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation A chromosomal structure variation within a single chromosome. http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation An incomplete chromosome. http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity Material anatomical entity that forms the outermost boundary of an anatomical structure. http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/NCIT_C106497 Age at Menopause http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which permanent cessation of menses occurs. http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/NCIT_C107601 Other Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/NCIT_C107602 Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/NCIT_C107607 Mexican or Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Mexican or Mexican American culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/NCIT_C107608 Cuban http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Cuban culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/NCIT_C107609 Other Hispanic or Latino(a) http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C17005 Population Group http://purl.obolibrary.org/obo/BFO_0000040 material entity A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/NCIT_C25150 Age http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute How long something has existed; elapsed time since birth. http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/NCIT_C41260 Asian http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/NCIT_C120451 Social Security Retirement Benefit http://purl.obolibrary.org/obo/NCIT_C41150 Income The money received by retired workers who have paid in to the Social Security system during their working years. http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/NCIT_C120452 Pension http://purl.obolibrary.org/obo/NCIT_C41150 Income A fixed sum paid regularly to a person by their former employer. http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/NCIT_C120919 Left Ventricular End Diastolic Pressure http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/NCIT_C120920 Left Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/NCIT_C25299 Diastolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/NCIT_C41150 Income http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/NCIT_C85406 Gross Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A person's total income before taxes, exclusions, and deductions. http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/NCIT_C86558 Inuit http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/NCIT_C87105 Newborn Blood Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C94488 standing height http://purl.obolibrary.org/obo/NCIT_C25347 Height The height of a person while standing. http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/HP_0031797 Clinical course http://purl.obolibrary.org/obo/HP_0000001 All The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/OPMI_0000017 higher than 7th but less than 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000020 less than 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates the 7th grade complete or less as the highest level of educational achievement. http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/OPMI_0000218 email question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/OPMI_0000219 What email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks the exact email address http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000220 Whether self owns email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000218 email question An email question that asks whether the email address provided belongs to the person being surveyed. http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/OPMI_0000222 What is your birthday http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that asks the birthday of the person being surveyed http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OPMI_0000223 contact name http://purl.obolibrary.org/obo/IAO_0000300 textual entity The textual name of the contact person or organization http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/OPMI_0000224 emergency contact name http://purl.obolibrary.org/obo/OPMI_0000223 contact name The textual name of the contact person or organization that will be contacted during emergency http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/OPMI_0000230 patient care http://purl.obolibrary.org/obo/OPMI_0000229 health care A health care rendered for the benefit of a patient. http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/OPMI_0000231 primary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000233 tertiary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/OPMI_0000234 quaternary care http://purl.obolibrary.org/obo/OPMI_0000230 patient care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/OPMI_0000235 hospital care http://purl.obolibrary.org/obo/OPMI_0000230 patient care A patient care that is provided in hospital. http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form A clinical report form that is related to the processing and analysis of tissue of diseased patient. http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/OPMI_0000268 Whether patient eligible to consent http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question A eligibility question that asks whether a patient is eligible to consent to participate in a project. http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/OPMI_0000274 biopsy http://purl.obolibrary.org/obo/OBI_0600005 collecting specimen from organism a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/OPMI_0000287 specimen barcode http://purl.obolibrary.org/obo/OPMI_0000286 barcode a barcode that represents a specific specimen http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/OPMI_0000288 tissue tracking http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OPMI_0000398 primary sponsor role http://purl.obolibrary.org/obo/OBI_0000243 sponsor role A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/OPMI_0000400 principal investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/OPMI_0000401 sponsor investigator role http://purl.obolibrary.org/obo/OPMI_0000390 investigator role An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/OPMI_0000405 sponsor http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/OPMI_0000407 primary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/OPMI_0000408 secondary sponsor http://purl.obolibrary.org/obo/OPMI_0000405 sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000411 principal investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is designated as responsible party by the sponsor http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/OPMI_0000412 sponsor investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator role taken by an individual who both initiates and conducts the study http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000403 inclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000404 primary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. http://purl.obolibrary.org/obo/OPMI_0000409 secondary registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/OPMI_0000413 identifier role http://purl.obolibrary.org/obo/BFO_0000023 role A role taken by a string (which may have mixed integer and text) that serves as a unique record. http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/OPMI_0000415 secondary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/OPMI_0000416 primary registry identifier role http://purl.obolibrary.org/obo/OPMI_0000413 identifier role An identifier role that is assigned by a primary registry and provides a unique record. http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Cell death (necrosis) affecting one or more parts of the kidney. http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/CL_0019018 blood vessel smooth muscle cell http://purl.obolibrary.org/obo/CL_0000359 vascular associated smooth muscle cell A smooth muscle cell that is part of any blood vessel. http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/CHEBI_167559 glycan http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/OPMI_0000588 medical occurrence http://purl.obolibrary.org/obo/BFO_0000015 process A process that a patient experiences over a period of time. http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/OPMI_0000619 preoperative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/CL_4030018 kidney connecting tubule principal cell http://purl.obolibrary.org/obo/CL_1000768 kidney connecting tubule epithelial cell A renal principal cell located in the connecting tubule. http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/CHEBI_10545 electron http://purl.obolibrary.org/obo/CHEBI_36338 lepton Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/CHEBI_15734 primary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CHEBI_36338 lepton http://purl.obolibrary.org/obo/CHEBI_36340 fermion Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/CHEBI_77746 human metabolite http://purl.obolibrary.org/obo/CHEBI_75768 mammalian metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound A compound composed of two or more pyrrole units. http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/CHEBI_51151 dipolar compound http://purl.obolibrary.org/obo/CHEBI_72695 organic molecule An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CHEBI_71392 tetracycline(1-) http://purl.obolibrary.org/obo/CHEBI_25696 organic anion An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/CHEBI_77932 tetracycline zwitterion http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom Any metal which causes the onset of an allergic reaction. http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CHEBI_35136 iron protein Conjugated proteins containing heme as the prosthetic group. http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/CHEBI_36340 fermion http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/CHEBI_36343 composite particle http://purl.obolibrary.org/obo/CHEBI_36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/CHEBI_36344 hadron http://purl.obolibrary.org/obo/CHEBI_36343 composite particle Hadron is a subatomic particle which experiences the strong force. http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/CHEBI_51269 acenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/CHEBI_52210 pharmacological role http://purl.obolibrary.org/obo/CHEBI_24432 biological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/CHEBI_75787 prokaryotic metabolite http://purl.obolibrary.org/obo/CHEBI_25212 metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/CHEBI_76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor http://purl.obolibrary.org/obo/CHEBI_76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/CARO_0001010 organism or virus or viroid http://purl.obolibrary.org/obo/PCO_0000031 organismal entity Material anatomical entity that is a member of an individual species or is a viral or viroid particle. http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms http://purl.obolibrary.org/obo/PCO_0000031 organismal entity A material entity that consists of two or more organisms, viruses, or viroids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/PCO_0000002 ecological community http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/PCO_0000028 community http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/PCO_0000029 multi-species collection of organisms http://purl.obolibrary.org/obo/PCO_0000000 collection of organisms A collection of organisms that consists of two or more organisms from at least two species. http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/PCO_0000031 organismal entity http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that is one or more organisms, viruses or viroids. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/SO_0000733 feature_attribute http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describing a located_sequence_feature. http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/SO_0001235 replicon http://purl.obolibrary.org/obo/SO_0001411 biological_region A region containing at least one unique origin of replication and a unique termination site. http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A position or feature where two sequences have been compared. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/SO_0005855 gene_group http://purl.obolibrary.org/obo/SO_0001411 biological_region A collection of related genes. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/IAO_0021003 social act http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/IAO_0021004 socio-legal generically dependent continuant http://purl.obolibrary.org/obo/BFO_0000031 generically dependent continuant Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/IAO_0021005 declaration http://purl.obolibrary.org/obo/IAO_0021003 social act A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/IAO_0021022 declaration performer role http://purl.obolibrary.org/obo/BFO_0000023 role A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role A social role inhering in a human being. http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role http://purl.obolibrary.org/obo/OMRSE_00000010 human health care role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OMRSE_00000017 physician practice http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization consisting of two or more physicians. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000019 integrated delivery network http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A health care provider organization role that inheres in an organization that is comprised of other organizations. http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/OMRSE_00000022 collection of organisms http://purl.obolibrary.org/obo/BFO_0000040 material entity An object aggregate of organisms. http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organization. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/OMRSE_00000026 organism social role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role in human social processes that inheres in an organism. http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role An organization social role that is realized by a health care process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role http://purl.obolibrary.org/obo/BFO_0000023 role A role that inheres in an organism and is realized by habitually smoking tobacco products. http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/OMRSE_00000054 hospital role http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/OMRSE_00000057 school organization http://purl.obolibrary.org/obo/OBI_0000245 organization An organization that is the bearer of a school role. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000058 student role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization A human social role that is realized by the process of formal education that the bearer undergoes. http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000069 burn patient role http://purl.obolibrary.org/obo/OMRSE_00000067 injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/OMRSE_00000075 residence function http://purl.obolibrary.org/obo/BFO_0000034 function A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/OMRSE_00000076 household http://purl.obolibrary.org/obo/BFO_0000040 material entity A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/OMRSE_00000082 US Census reference person role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/OMRSE_00000129 US physician assistant role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/OMRSE_00000130 anesthesiologist role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/OMRSE_00000186 heavy smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/OMRSE_00000187 light smoker role http://purl.obolibrary.org/obo/OMRSE_00000039 smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection http://purl.obolibrary.org/obo/GO_0042995 cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/NCIT_C128457 American Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/NCIT_C128458 Australian/New Zealand Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Australian and New Zealander. http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/NCIT_C128459 Intercontinental Ethnicity http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A collection of ethnic geographical categories including Middle Eastern and Hispanic. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/NCIT_C128937 African American http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American Denotes a person of African ancestral origins whose family settled in America. http://purl.obolibrary.org/obo/NCIT_C128991 Black Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in Central America. http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C128992 Black South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in South America. http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/NCIT_C128993 White Central American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. http://purl.obolibrary.org/obo/NCIT_C128994 White South American http://purl.obolibrary.org/obo/NCIT_C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/NCIT_C129953 Right Ventricular Systolic Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C129958 Pulmonary Artery Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure in the pulmonary artery. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/NCIT_C129959 Left Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/NCIT_C130056 Estimated Mean Atrial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The estimated arithmetic average of atrial pressure. http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) http://purl.obolibrary.org/obo/NCIT_C41261 White http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute The pressure of the circulating blood against the walls of the blood vessels. http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation A disease that has its basis in the disruption of GPI anchor biosynthetic process. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth Any structural anomaly of the mouth, which is also known as the oral cavity. http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/OPMI_0000453 cellular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/OPMI_0000455 predictive biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can predict clincal outcome. http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/OPMI_0000456 prognostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/OPMI_0000457 diagnostic biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker A biomarker that is indicative of a disease and achieved through imaging. http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/CL_4030015 kidney collecting duct alpha-intercalated cell http://purl.obolibrary.org/obo/CL_1001432 kidney collecting duct intercalated cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/CL_4030005 kidney collecting duct beta-intercalated cell http://purl.obolibrary.org/obo/CL_1000715 kidney cortex collecting duct intercalated cell A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/VO_0000884 aluminum vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant a mineral salt vaccine adjuvant that is composed of aluminum salt. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/UBERON_0007831 pectoral girdle skeleton http://purl.obolibrary.org/obo/UBERON_0010719 girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OGMS_0000017 image finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of an image that supports an inference to an assertion about some quality of a patient. http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding http://purl.obolibrary.org/obo/OGMS_0000014 clinical finding TODO: Define. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/OGMS_0000096 health care process http://purl.obolibrary.org/obo/OBI_0000011 planned process A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://purl.obolibrary.org/obo/OGMS_0000102 injury http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/OMRSE_00000007 gender role http://purl.obolibrary.org/obo/BFO_0000023 role A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_30879 alcohol An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/ECTO_0000509 drug exposure http://purl.obolibrary.org/obo/ECTO_0000486 application exposure An exposure to drug. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease A disease that involves the cutaneous appendage. http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A broad grouping of diseases based on major body subdivisions. http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy http://purl.obolibrary.org/obo/MONDO_0005283 retinal disease An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism A disease that has its basis in the disruption of cellular amino acid metabolic process. http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/HP_0020132 Thickening of the tubular basement membrane http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/HP_0020204 Tubulointerstitial bacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/HP_0020205 Tubulointerstitial fungal infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032582 Renal interstitial foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/HP_0032584 Renal interstitial neutrophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of neutrophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032585 Renal interstitial eosinophil infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of eosinophils in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032586 Renal interstitial plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Increased numbers of plasma cells in the interstitial tissues of the kidney. http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032587 Renal interstitial calcium oxalate http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/HP_0032589 Renal lymphocytic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by lymphocytes. http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/HP_0032590 Renal neutrophilic tubulitis http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Infiltration of the renal tubular epithelium by neutrophils. http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032591 Renal interstitial hemosiderin http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032594 Renal tubular basement membrane denudation http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology Naked basement membranes without tubular epithelium. http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/HP_0032595 Renal tubular epithelial cell detachment http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/HP_0032596 Renal tubular epithelial cell cytoplasmic vacuolization http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/HP_0032597 Renal tubular epithelial cell sloughing http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/HP_0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/HP_0032600 Renal tubular epithelial cell hyaline droplets http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/HP_0032601 Multinucleation of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/HP_0032602 Prominent nucleoli of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelium with nucleoli clearly visible at 100-fold magnification. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://purl.obolibrary.org/obo/HP_0032603 Renal tubular epithelial cell simplification http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032604 Renal tubular epithelial cell mitosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/HP_0032605 High renal tubular epithelial cell N/C ratio http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/HP_0032606 Renal tubular epithelial lipofuscin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032607 Renal tubular epithelial cell swelling http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/HP_0032608 Thyroidization-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/HP_0032609 Endocrine-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/HP_0032610 Tubulointerstitial mycobacterial infiltration http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0032611 Renal tubular epithelial cell hemosiderin http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloid deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032614 Renal glomerular amyloid deposition http://purl.obolibrary.org/obo/HP_0001917 Renal amyloidosis Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial hemorrhage http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/HP_0032619 Perinephric abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/HP_0032620 Intrarenal abscess http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/HP_0032621 Hyperchromasia of renal tubular epithelial cells http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/HP_0032622 Tubular luminal dilatation http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/HP_0032624 Intratubular bilirubin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/HP_0032625 Intratubular erythrocyte cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain red blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/HP_0032626 Intratubular vancomycin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Intratubular casts composed of vancomycin aggregates and uromodulin. http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0032627 Intratubular leukocyte casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts that contain white blood cells and are located within the tubuli of the kidney. http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/HP_0032629 Intratubular dihydroxyadenuria crystals http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0032630 Intratubular light-chain casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0032631 Intratubular hemoglobin casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/HP_0032632 Renal papillary necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/HP_0032633 Intratubular hyaline casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0032634 Intratubular myoglobin cast http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/HP_0032635 Tubulointerstitial microganismal infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0032636 Tubulointerstitial viral infiltration http://purl.obolibrary.org/obo/HP_0001969 Abnormal tubulointerstitial morphology Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial edema http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomas http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/HP_0032645 Renal interstitial mononuclear cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/HP_0032646 Renal interstitial xanthogranulomatous inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis http://purl.obolibrary.org/obo/HP_0032599 Abnormal renal tubular epithelial morphology Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/HP_0032648 Tubularization of Bowman capsule http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. http://purl.obolibrary.org/obo/HP_0041050 Renal tubular cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region http://purl.obolibrary.org/obo/BFO_0000008 temporal region A temporal region that is associated with an observation http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/OPMI_0000577 observation period start date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation starts. http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000578 observation period end date http://purl.obolibrary.org/obo/OPMI_0000576 observation temporal region A date when an observation ends. http://purl.obolibrary.org/obo/OPMI_0000579 measurement time http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A time when a measurement is conducted. http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/OPMI_0000580 measurement date http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A date when a measurement is conducted. http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/OPMI_0000581 measurement datetime http://purl.obolibrary.org/obo/OPMI_0000579 measurement time A datetime when a measurement is conducted. http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/CL_4030038 CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/UBERON_0003071 eye primordium http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign neoplasm that involves the adrenal gland. http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis http://purl.obolibrary.org/obo/MONDO_0005519 renal pelvis carcinoma A in situ carcinoma that involves the renal pelvis. http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/MONDO_0021856 Alsing syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration http://purl.obolibrary.org/obo/MONDO_0005559 neurodegenerative disease Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/MONDO_0022993 dipsogenic diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/MONDO_0023227 gestational diabetes insipidus http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/MONDO_0023275 Graham-Boyle-Troxell syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0044987 face disease A disease that involves the facial skeleton. http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. http://purl.obolibrary.org/obo/ECTO_0000259 glucocorticoid exposure http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure An exposure to glucocorticoid. http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005217 familial cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system A disease that involves the visual system. http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/OPMI_0000467 Unified Social Credit Identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/HP_6000254 Abnormal proximal convoluted tubule morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/GO_0000003 reproduction http://purl.obolibrary.org/obo/GO_0008150 biological_process The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/GO_0000278 mitotic cell cycle http://purl.obolibrary.org/obo/GO_0007049 cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0000280 nuclear division http://purl.obolibrary.org/obo/GO_0048285 organelle fission The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole http://purl.obolibrary.org/obo/GO_0005773 vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region http://purl.obolibrary.org/obo/GO_0098687 chromosomal region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/GO_0000785 chromatin http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/GO_0000791 euchromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/GO_0000792 heterochromatin http://purl.obolibrary.org/obo/GO_0000785 chromatin A compact and highly condensed form of chromatin that is refractory to transcription. http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/GO_0001101 response to acid chemical http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/GO_0001501 skeletal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/GO_0001503 ossification http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://purl.obolibrary.org/obo/GO_0001508 action potential http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/GO_0001525 angiogenesis http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0001568 blood vessel development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/GO_0001578 microtubule bundle formation http://purl.obolibrary.org/obo/GO_0000226 microtubule cytoskeleton organization A process that results in a parallel arrangement of microtubules. http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0001654 eye development http://purl.obolibrary.org/obo/GO_0007423 sensory organ development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0001655 urogenital system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/GO_0001664 G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a G protein-coupled receptor. http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/GO_0001666 response to hypoxia http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration http://purl.obolibrary.org/obo/GO_0016477 cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/GO_0001677 formation of translation initiation ternary complex http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/GO_0001678 cellular glucose homeostasis http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis The formation of the ectoderm, mesoderm and endoderm during gastrulation. http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/GO_0001705 ectoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of ectoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0001706 endoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The formation of the endoderm during gastrulation. http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0001707 mesoderm formation http://purl.obolibrary.org/obo/GO_0001704 formation of primary germ layer The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/GO_0001727 lipid kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the phosphorylation of a simple or complex lipid. http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/GO_0001755 neural crest cell migration http://purl.obolibrary.org/obo/GO_0001667 ameboidal-type cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/GO_0001763 morphogenesis of a branching structure http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/GO_0001773 myeloid dendritic cell activation http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/GO_0001775 cell activation http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/GO_0001816 cytokine production http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/GO_0001820 serotonin secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/GO_0001821 histamine secretion http://purl.obolibrary.org/obo/GO_0051608 histamine transport The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/GO_0001822 kidney development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/GO_0001841 neural tube formation http://purl.obolibrary.org/obo/GO_0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/GO_0001944 vasculature development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0001977 renal system process involved in regulation of blood volume http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone http://purl.obolibrary.org/obo/GO_0050886 endocrine process The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure The physiological response of the kidneys to a decrease in blood flow. http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/GO_0002001 renin secretion into blood stream http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of renin into the blood stream by juxtoglomerular cells. http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/GO_0002088 lens development in camera-type eye http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/GO_0002089 lens morphogenesis in camera-type eye http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors http://purl.obolibrary.org/obo/GO_0002376 immune system process The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/GO_0002204 somatic recombination of immunoglobulin genes involved in immune response http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/GO_0002208 somatic diversification of immunoglobulins involved in immune response http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/GO_0002228 natural killer cell mediated immunity http://purl.obolibrary.org/obo/GO_0045087 innate immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/GO_0002244 hematopoietic progenitor cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/GO_0002252 immune effector process http://purl.obolibrary.org/obo/GO_0002376 immune system process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/GO_0002253 activation of immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that initiates an immune response. http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/GO_0002263 cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0002252 immune effector process A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0002274 myeloid leukocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/GO_0002285 lymphocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response http://purl.obolibrary.org/obo/GO_0042113 B cell activation The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/GO_0002335 mature B cell differentiation http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/GO_0002349 histamine production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/GO_0002366 leukocyte activation involved in immune response http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/GO_0002376 immune system process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0002381 immunoglobulin production involved in immunoglobulin-mediated immune response http://purl.obolibrary.org/obo/GO_0002377 immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/GO_0002437 inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0006955 immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/GO_0002440 production of molecular mediator of immune response http://purl.obolibrary.org/obo/GO_0010467 gene expression The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002252 immune effector process Any process involved in the carrying out of an immune response by a leukocyte. http://purl.obolibrary.org/obo/GO_0002444 myeloid leukocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/GO_0002449 lymphocyte mediated immunity http://purl.obolibrary.org/obo/GO_0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/GO_0002456 T cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved in the carrying out of an immune response by a T cell. http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002250 adaptive immune response An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002507 tolerance induction Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/GO_0002465 peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/GO_0002495 antigen processing and presentation of peptide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/GO_0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/GO_0002507 tolerance induction http://purl.obolibrary.org/obo/GO_0002376 immune system process A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://purl.obolibrary.org/obo/GO_0002520 immune system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity http://purl.obolibrary.org/obo/GO_0002438 acute inflammatory response to antigenic stimulus An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/GO_0002526 acute inflammatory response http://purl.obolibrary.org/obo/GO_0006954 inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/GO_0002536 respiratory burst involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002532 production of molecular mediator involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/GO_0002539 prostaglandin production involved in inflammatory response http://purl.obolibrary.org/obo/GO_0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/GO_0002548 monocyte chemotaxis http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration The movement of a monocyte in response to an external stimulus. http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/GO_0002576 platelet degranulation http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/GO_0002643 regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process Any process that modulates the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/GO_0002645 positive regulation of tolerance induction http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate, or extent of tolerance induction. http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/GO_0002654 positive regulation of tolerance induction dependent upon immune response http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002652 regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/GO_0002660 positive regulation of peripheral tolerance induction http://purl.obolibrary.org/obo/GO_0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/GO_0002679 respiratory burst involved in defense response http://purl.obolibrary.org/obo/GO_0045730 respiratory burst A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/GO_0002682 regulation of immune system process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/GO_0002683 negative regulation of immune system process http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/GO_0002684 positive regulation of immune system process http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates or increases the frequency, rate, or extent of an immune system process. http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/GO_0002685 regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration Any process that modulates the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/GO_0002687 positive regulation of leukocyte migration http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/GO_0002688 regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/GO_0002690 positive regulation of leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation Any process that modulates the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/GO_0002696 positive regulation of leukocyte activation http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/GO_0002790 peptide secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a peptide from a cell or a tissue. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/GO_0002821 positive regulation of adaptive immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002819 regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://purl.obolibrary.org/obo/GO_0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains http://purl.obolibrary.org/obo/GO_0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/GO_0002828 regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/GO_0002830 positive regulation of type 2 immune response http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0003008 system process http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0003012 muscle system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/GO_0003013 circulatory system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://purl.obolibrary.org/obo/GO_0003014 renal system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0003015 heart process http://purl.obolibrary.org/obo/GO_0003013 circulatory system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0003016 respiratory system process http://purl.obolibrary.org/obo/GO_0003008 system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/GO_0003044 regulation of systemic arterial blood pressure mediated by a chemical signal http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/GO_0003071 renal system process involved in regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0003014 renal system process Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/GO_0003073 regulation of systemic arterial blood pressure http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/GO_0003081 regulation of systemic arterial blood pressure by renin-angiotensin http://purl.obolibrary.org/obo/GO_0001990 regulation of systemic arterial blood pressure by hormone The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/GO_0003091 renal water homeostasis http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0003093 regulation of glomerular filtration http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/GO_0003094 glomerular filtration http://purl.obolibrary.org/obo/GO_0097205 renal filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/GO_0003097 renal water transport http://purl.obolibrary.org/obo/GO_0006833 water transport The directed movement of water (H2O) by the renal system. http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/GO_0003333 amino acid transmembrane transport http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport The process in which an amino acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0003341 cilium movement http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement The directed, self-propelled movement of a cilium. http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0003674 molecular_function http://purl.obolibrary.org/obo/BFO_0000034 function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding Interacting selectively and non-covalently with any nucleic acid. http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0003677 DNA binding http://purl.obolibrary.org/obo/GO_0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/GO_0003824 catalytic activity http://purl.obolibrary.org/obo/GO_0003674 molecular_function Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0004035 alkaline phosphatase activity http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0004553 hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0016798 hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any O-glycosyl bond. http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/GO_0004930 G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0004888 transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/GO_0005126 cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/GO_0005488 binding http://purl.obolibrary.org/obo/GO_0003674 molecular_function The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0005515 protein binding http://purl.obolibrary.org/obo/GO_0005488 binding Binding to a protein. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/GO_0005622 intracellular anatomical structure http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/GO_0005634 nucleus http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/GO_0005694 chromosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/GO_0005737 cytoplasm http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0005739 mitochondrion http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0005764 lysosome http://purl.obolibrary.org/obo/GO_0000323 lytic vacuole A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0005773 vacuole http://purl.obolibrary.org/obo/GO_0043231 intracellular membrane-bounded organelle A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed within the vacuolar membrane. http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/GO_0005829 cytosol http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0005840 ribosome http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0005886 plasma membrane http://purl.obolibrary.org/obo/GO_0016020 membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/GO_0005887 integral component of plasma membrane http://purl.obolibrary.org/obo/GO_0031226 intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/GO_0005976 polysaccharide metabolic process http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process http://purl.obolibrary.org/obo/GO_0006112 energy reserve metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation http://purl.obolibrary.org/obo/GO_0046034 ATP metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0006281 DNA repair http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0006310 DNA recombination http://purl.obolibrary.org/obo/GO_0006259 DNA metabolic process Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription The cellular synthesis of RNA on a template of DNA. http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/GO_0006357 regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0006366 transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0006351 transcription, DNA-templated The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/GO_0006412 translation http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0006413 translational initiation http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006414 translational elongation http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0006415 translational termination http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process http://purl.obolibrary.org/obo/GO_0044267 cellular protein metabolic process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/GO_0006468 protein phosphorylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/GO_0006814 sodium ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0006833 water transport http://purl.obolibrary.org/obo/GO_0042044 fluid transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0006837 serotonin transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0006865 amino acid transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/GO_0006869 lipid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/GO_0006909 phagocytosis http://purl.obolibrary.org/obo/GO_0016192 vesicle-mediated transport A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/GO_0006915 apoptotic process http://purl.obolibrary.org/obo/GO_0012501 programmed cell death A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/GO_0006950 response to stress http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/GO_0006952 defense response http://purl.obolibrary.org/obo/GO_0006950 response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/GO_0006954 inflammatory response http://purl.obolibrary.org/obo/GO_0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/GO_0006955 immune response http://purl.obolibrary.org/obo/GO_0002376 immune system process Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0006956 complement activation http://purl.obolibrary.org/obo/GO_0006959 humoral immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/GO_0006959 humoral immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response mediated through a body fluid. http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/GO_0006974 cellular response to DNA damage stimulus http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/GO_0007005 mitochondrion organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/GO_0007010 cytoskeleton organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/GO_0007018 microtubule-based movement http://purl.obolibrary.org/obo/GO_0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/GO_0007049 cell cycle http://purl.obolibrary.org/obo/GO_0009987 cellular process The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/GO_0007154 cell communication http://purl.obolibrary.org/obo/GO_0009987 cellular process Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/GO_0007155 cell adhesion http://purl.obolibrary.org/obo/GO_0009987 cellular process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/GO_0007165 signal transduction http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/GO_0007166 cell surface receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/GO_0007186 G protein-coupled receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling http://purl.obolibrary.org/obo/GO_0023052 signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/GO_0007369 gastrulation http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/GO_0007398 ectoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/GO_0007423 sensory organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/GO_0007492 endoderm development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/GO_0007507 heart development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. http://purl.obolibrary.org/obo/GO_0008150 biological_process http://purl.obolibrary.org/obo/BFO_0000015 process A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/GO_0008217 regulation of blood pressure http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation http://purl.obolibrary.org/obo/GO_0009987 cellular process The multiplication or reproduction of cells, resulting in the expansion of a cell population. http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/GO_0009074 aromatic amino acid family catabolic process http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/GO_0009306 protein secretion http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region The controlled release of proteins from a cell. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/GO_0009605 response to external stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/GO_0009611 response to wounding http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/GO_0009617 response to bacterium http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/GO_0009791 post-embryonic development http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching http://purl.obolibrary.org/obo/GO_0009790 embryo development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009888 tissue development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0009914 hormone transport http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of signal transduction. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/GO_0009967 positive regulation of signal transduction http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication Any process that activates or increases the frequency, rate or extent of signal transduction. http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/GO_0009987 cellular process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/GO_0010033 response to organic substance http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/GO_0010467 gene expression http://purl.obolibrary.org/obo/GO_0009059 macromolecule biosynthetic process The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/GO_0010556 regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/GO_0010557 positive regulation of macromolecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/GO_0010646 regulation of cell communication http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/GO_0010817 regulation of hormone levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/GO_0012501 programmed cell death http://purl.obolibrary.org/obo/GO_0008219 cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development http://purl.obolibrary.org/obo/GO_0048864 stem cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/GO_0015103 inorganic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046943 carboxylic acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0015291 secondary active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0015629 actin cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0015630 microtubule cytoskeleton http://purl.obolibrary.org/obo/GO_0005856 cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/GO_0015698 inorganic anion transport http://purl.obolibrary.org/obo/GO_0006820 anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/GO_0015711 organic anion transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0015748 organophosphate ester transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport http://purl.obolibrary.org/obo/GO_0006865 amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0015833 peptide transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0016050 vesicle organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0016064 immunoglobulin mediated immune response http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity An immune response mediated by immunoglobulins, whether cell-bound or in solution. http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/GO_0016070 RNA metabolic process http://purl.obolibrary.org/obo/GO_0090304 nucleic acid metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/GO_0016301 kinase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/GO_0016331 morphogenesis of embryonic epithelium http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis The process in which the anatomical structures of embryonic epithelia are generated and organized. http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/GO_0016444 somatic cell DNA recombination http://purl.obolibrary.org/obo/GO_0006310 DNA recombination Recombination occurring within or between DNA molecules in somatic cells. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins http://purl.obolibrary.org/obo/GO_0002200 somatic diversification of immune receptors The somatic process that results in the generation of sequence diversity of immunoglobulins. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0016447 somatic recombination of immunoglobulin gene segments http://purl.obolibrary.org/obo/GO_0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0016477 cell migration http://purl.obolibrary.org/obo/GO_0048870 cell motility The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0016485 protein processing http://purl.obolibrary.org/obo/GO_0008150 biological_process Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors http://purl.obolibrary.org/obo/GO_0016491 oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor http://purl.obolibrary.org/obo/GO_0016627 oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/GO_0016740 transferase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/GO_0016773 phosphotransferase activity, alcohol group as acceptor http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/GO_0016778 diphosphotransferase activity http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/GO_0016787 hydrolase activity http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0016791 phosphatase activity http://purl.obolibrary.org/obo/GO_0042578 phosphoric ester hydrolase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0018130 heterocycle biosynthetic process http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0019438 aromatic compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/GO_0019724 B cell mediated immunity http://purl.obolibrary.org/obo/GO_0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0019953 sexual reproduction http://purl.obolibrary.org/obo/GO_0000003 reproduction A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/GO_0021915 neural tube development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0022402 cell cycle process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0022414 reproductive process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0022600 digestive system process http://purl.obolibrary.org/obo/GO_0003008 system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0022603 regulation of anatomical structure morphogenesis http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly http://purl.obolibrary.org/obo/GO_0016043 cellular component organization The aggregation, arrangement and bonding together of a cellular component. http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0022618 protein-RNA complex assembly http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/GO_0023051 regulation of signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a signaling process. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/GO_0023056 positive regulation of signaling http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/GO_0030001 metal ion transport http://purl.obolibrary.org/obo/GO_0006812 cation transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030097 hemopoiesis http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/GO_0030098 lymphocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/GO_0030141 secretory granule http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/GO_0030154 cell differentiation http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. http://purl.obolibrary.org/obo/GO_0030183 B cell differentiation http://purl.obolibrary.org/obo/GO_0042113 B cell activation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/GO_0030217 T cell differentiation http://purl.obolibrary.org/obo/GO_0042110 T cell activation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/GO_0030258 lipid modification http://purl.obolibrary.org/obo/GO_0044255 cellular lipid metabolic process The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation http://purl.obolibrary.org/obo/GO_0051276 chromosome organization The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/GO_0030334 regulation of cell migration http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility Any process that modulates the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0030335 positive regulation of cell migration http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell migration. http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/GO_0030595 leukocyte chemotaxis http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a leukocyte in response to an external stimulus. http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/GO_0031128 developmental induction http://purl.obolibrary.org/obo/GO_0032502 developmental process A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0031325 positive regulation of cellular metabolic process http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0031326 regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0031328 positive regulation of cellular biosynthetic process http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle A vesicle found in the cytoplasm of a cell. http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0031981 nuclear lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the nuclear inner membrane. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/GO_0032101 regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/GO_0032103 positive regulation of response to external stimulus http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/GO_0032432 actin filament bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process http://purl.obolibrary.org/obo/GO_0008150 biological_process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/GO_0032502 developmental process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/GO_0032940 secretion by cell http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of a substance by a cell. http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/GO_0032984 protein-containing complex disassembly http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization The disaggregation of a protein-containing macromolecular complex into its constituent components. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0032993 protein-DNA complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex containing both protein and DNA molecules. http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/GO_0033554 cellular response to stress http://purl.obolibrary.org/obo/GO_0006950 response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction http://purl.obolibrary.org/obo/GO_0007165 signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/GO_0035987 endodermal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/GO_0036293 response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity http://purl.obolibrary.org/obo/GO_0060089 molecular transducer activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/GO_0042060 wound healing http://purl.obolibrary.org/obo/GO_0009611 response to wounding The series of events that restore integrity to a damaged tissue, following an injury. http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/GO_0042092 type 2 immune response http://purl.obolibrary.org/obo/GO_0006955 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/GO_0042098 T cell proliferation http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation The expansion of a T cell population by cell division. Follows T cell activation. http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/GO_0042110 T cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/GO_0042113 B cell activation http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that modulates the frequency, rate or extent of cell proliferation. http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/GO_0042221 response to chemical http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0042325 regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/GO_0042327 positive regulation of phosphorylation http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/GO_0042330 taxis http://purl.obolibrary.org/obo/GO_0040011 locomotion The directed movement of a motile cell or organism in response to an external stimulus. http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/GO_0042391 regulation of membrane potential http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/GO_0042592 homeostatic process http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any biological process involved in the maintenance of an internal steady state. http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/GO_0042593 glucose homeostasis http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0042995 cell projection http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/GO_0043009 chordate embryonic development http://purl.obolibrary.org/obo/GO_0009792 embryo development ending in birth or egg hatching The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/GO_0043010 camera-type eye development http://purl.obolibrary.org/obo/GO_0001654 eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0043011 myeloid dendritic cell differentiation http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/GO_0043043 peptide biosynthetic process http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/GO_0043073 germ cell nucleus http://purl.obolibrary.org/obo/GO_0005634 nucleus The nucleus of a germ cell, a reproductive cell in multicellular organisms. http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/GO_0043207 response to external biotic stimulus http://purl.obolibrary.org/obo/GO_0009607 response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/GO_0043226 organelle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/GO_0043232 intracellular non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/GO_0043235 receptor complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/GO_0043410 positive regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0043436 oxoacid metabolic process http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0043603 amide metabolic process http://purl.obolibrary.org/obo/GO_0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0043604 amide biosynthetic process http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The chemical reactions and pathways by which individual cells transform chemical substances. http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/GO_0044271 cellular nitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process http://purl.obolibrary.org/obo/GO_0009056 catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process http://purl.obolibrary.org/obo/GO_0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0044703 multi-organism reproductive process http://purl.obolibrary.org/obo/GO_0051704 multi-organism process A biological process that directly contributes to the process of producing new individuals, involving another organism. http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/GO_0045055 regulated exocytosis http://purl.obolibrary.org/obo/GO_0006887 exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/GO_0045087 innate immune response http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/GO_0045165 cell fate commitment http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation http://purl.obolibrary.org/obo/GO_0002376 immune system process A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/GO_0045730 respiratory burst http://purl.obolibrary.org/obo/GO_0008152 metabolic process A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated http://purl.obolibrary.org/obo/GO_0006355 regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/GO_0045944 positive regulation of transcription by RNA polymerase II http://purl.obolibrary.org/obo/GO_0045893 positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/GO_0046165 alcohol biosynthetic process http://purl.obolibrary.org/obo/GO_0044283 small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/GO_0046483 heterocycle metabolic process http://purl.obolibrary.org/obo/GO_0044237 cellular metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0046649 lymphocyte activation http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/GO_0046651 lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation The expansion of a lymphocyte population by cell division. http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/GO_0046717 acid secretion http://purl.obolibrary.org/obo/GO_0046903 secretion The controlled release of acid by a cell or a tissue. http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation http://purl.obolibrary.org/obo/GO_0030258 lipid modification The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0046879 hormone secretion http://purl.obolibrary.org/obo/GO_0023061 signal release The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0046903 secretion http://purl.obolibrary.org/obo/GO_0006810 transport The controlled release of a substance by a cell or a tissue. http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/GO_0048002 antigen processing and presentation of peptide antigen http://purl.obolibrary.org/obo/GO_0019882 antigen processing and presentation The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/GO_0048284 organelle fusion http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of a single organelle from two or more organelles. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/GO_0048285 organelle fission http://purl.obolibrary.org/obo/GO_0006996 organelle organization The creation of two or more organelles by division of one organelle. http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/GO_0048332 mesoderm morphogenesis http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/GO_0048468 cell development http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0048469 cell maturation http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/GO_0048513 animal organ development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/GO_0048514 blood vessel morphogenesis http://purl.obolibrary.org/obo/GO_0035239 tube morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/GO_0048518 positive regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/GO_0048519 negative regulation of biological process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/GO_0048584 positive regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/GO_0048585 negative regulation of response to stimulus http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis The process in which the anatomical structures of the eye are generated and organized. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0048593 camera-type eye morphogenesis http://purl.obolibrary.org/obo/GO_0048592 eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis http://purl.obolibrary.org/obo/GO_0032502 developmental process The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0048729 tissue morphogenesis http://purl.obolibrary.org/obo/GO_0009653 anatomical structure morphogenesis The process in which the anatomical structures of a tissue are generated and organized. http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/GO_0048731 system development http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/GO_0048754 branching morphogenesis of an epithelial tube http://purl.obolibrary.org/obo/GO_0061138 morphogenesis of a branching epithelium The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/GO_0048762 mesenchymal cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/GO_0048856 anatomical structure development http://purl.obolibrary.org/obo/GO_0032502 developmental process The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/GO_0048869 cellular developmental process http://purl.obolibrary.org/obo/GO_0032502 developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/GO_0048870 cell motility http://purl.obolibrary.org/obo/GO_0040011 locomotion Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/GO_0048872 homeostasis of number of cells http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity http://purl.obolibrary.org/obo/GO_0019203 carbohydrate phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/GO_0050309 sugar-terminal-phosphatase activity http://purl.obolibrary.org/obo/GO_0050308 sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response http://purl.obolibrary.org/obo/GO_0048583 regulation of response to stimulus Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/GO_0050777 negative regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/GO_0050778 positive regulation of immune response http://purl.obolibrary.org/obo/GO_0050776 regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://purl.obolibrary.org/obo/GO_0050865 regulation of cell activation http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/GO_0050867 positive regulation of cell activation http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of activation. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/GO_0050877 nervous system process http://purl.obolibrary.org/obo/GO_0003008 system process A organ system process carried out by any of the organs or tissues of neurological system. http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/GO_0050878 regulation of body fluid levels http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the levels of body fluids. http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/GO_0050886 endocrine process http://purl.obolibrary.org/obo/GO_0003008 system process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/GO_0050891 multicellular organismal-level water homeostasis http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption http://purl.obolibrary.org/obo/GO_0022600 digestive system process Any process in which nutrients are taken up from the contents of the intestine. http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration http://purl.obolibrary.org/obo/GO_0016477 cell migration The movement of a leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process http://purl.obolibrary.org/obo/GO_0050877 nervous system process Any process pertaining to the functions of the nervous and muscular systems of an organism. http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/GO_0050920 regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/GO_0050921 positive regulation of chemotaxis http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/GO_0051094 positive regulation of developmental process http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/GO_0051240 positive regulation of multicellular organismal process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/GO_0051254 positive regulation of RNA metabolic process http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. http://purl.obolibrary.org/obo/GO_0051272 positive regulation of cellular component movement http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051276 chromosome organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/GO_0051301 cell division http://purl.obolibrary.org/obo/GO_0009987 cellular process The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051608 histamine transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/GO_0051707 response to other organism http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/GO_0055082 cellular chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/GO_0060249 anatomical structure homeostasis http://purl.obolibrary.org/obo/GO_0048871 multicellular organismal-level homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0060255 regulation of macromolecule metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/GO_0060429 epithelium development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. http://purl.obolibrary.org/obo/GO_0060485 mesenchyme development http://purl.obolibrary.org/obo/GO_0009888 tissue development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/GO_0060562 epithelial tube morphogenesis http://purl.obolibrary.org/obo/GO_0002009 morphogenesis of an epithelium The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0061025 membrane fusion http://purl.obolibrary.org/obo/GO_0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/GO_0070252 actin-mediated cell contraction http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/GO_0070482 response to oxygen levels http://purl.obolibrary.org/obo/GO_0009628 response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation http://purl.obolibrary.org/obo/GO_0008283 cell population proliferation The expansion of a leukocyte population by cell division. http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/GO_0070925 organelle assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/GO_0071674 mononuclear cell migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a mononuclear cell within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0071695 anatomical structure maturation http://purl.obolibrary.org/obo/GO_0021700 developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/GO_0072001 renal system development http://purl.obolibrary.org/obo/GO_0048731 system development The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/GO_0072175 epithelial tube formation http://purl.obolibrary.org/obo/GO_0035148 tube formation The developmental process pertaining to the initial formation of an epithelial tube. http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0072376 protein activation cascade http://purl.obolibrary.org/obo/GO_0050896 response to stimulus A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0090174 organelle membrane fusion http://purl.obolibrary.org/obo/GO_0061025 membrane fusion The joining of two lipid bilayers to form a single organelle membrane. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/GO_0097028 dendritic cell differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/GO_0097159 organic cyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0097190 apoptotic signaling pathway http://purl.obolibrary.org/obo/GO_0007165 signal transduction The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/GO_0097205 renal filtration http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which fluid circulating through the body is filtered through a barrier system. http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/GO_0097529 myeloid leukocyte migration http://purl.obolibrary.org/obo/GO_0050900 leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/GO_0097659 nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_0032774 RNA biosynthetic process The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism http://purl.obolibrary.org/obo/GO_0051707 response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/GO_0098657 import into cell http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. http://purl.obolibrary.org/obo/GO_0098687 chromosomal region http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any subdivision of a chromosome along its length. http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/GO_0098742 cell-cell adhesion via plasma-membrane adhesion molecules http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex Any protein complex that is part of a membrane. http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex Any protein complex that is part of the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/GO_0098801 regulation of renal system process http://purl.obolibrary.org/obo/GO_0044057 regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/GO_0099513 polymeric cytoskeletal fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organic cyclic compound. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/GO_1901361 organic cyclic compound catabolic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. http://purl.obolibrary.org/obo/GO_1901363 heterocyclic compound binding http://purl.obolibrary.org/obo/GO_0005488 binding Interacting selectively and non-covalently with heterocyclic compound. http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process The chemical reactions and pathways involving organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901565 organonitrogen compound catabolic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process http://purl.obolibrary.org/obo/GO_0006520 cellular amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/GO_1902105 regulation of leukocyte differentiation http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis Any process that modulates the frequency, rate or extent of leukocyte differentiation. http://purl.obolibrary.org/obo/GO_1903047 mitotic cell cycle process http://purl.obolibrary.org/obo/GO_0022402 cell cycle process A process that is part of the mitotic cell cycle. http://purl.obolibrary.org/obo/GO_1903506 regulation of nucleic acid-templated transcription http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. http://purl.obolibrary.org/obo/GO_1905039 carboxylic acid transmembrane transport http://purl.obolibrary.org/obo/GO_1903825 organic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of multicellular organismal development. http://purl.obolibrary.org/obo/GO_2001141 regulation of RNA biosynthetic process http://purl.obolibrary.org/obo/GO_0051252 regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/GO_0019216 regulation of lipid metabolic process http://purl.obolibrary.org/obo/GO_0080090 regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0019226 transmission of nerve impulse http://purl.obolibrary.org/obo/GO_0050877 nervous system process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/GO_0019815 B cell receptor complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/GO_0022407 regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0030155 regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0022409 positive regulation of cell-cell adhesion http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/GO_0022613 ribonucleoprotein complex biogenesis http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/GO_0023029 MHC class Ib protein binding http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding Binding to a major histocompatibility complex class Ib molecules. http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/GO_0023052 signaling http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. http://purl.obolibrary.org/obo/GO_0023061 signal release http://purl.obolibrary.org/obo/GO_0032940 secretion by cell The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process http://purl.obolibrary.org/obo/GO_0009987 cellular process Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0030030 cell projection organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/GO_0030048 actin filament-based movement http://purl.obolibrary.org/obo/GO_0030029 actin filament-based process Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a peptide hormone from a cell. http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/GO_0030073 insulin secretion http://purl.obolibrary.org/obo/GO_0030072 peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/GO_0030133 transport vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/GO_0030210 heparin biosynthetic process http://purl.obolibrary.org/obo/GO_0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0030219 megakaryocyte differentiation http://purl.obolibrary.org/obo/GO_0030099 myeloid cell differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/GO_0030221 basophil differentiation http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://purl.obolibrary.org/obo/GO_0030224 monocyte differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/GO_0030263 apoptotic chromosome condensation http://purl.obolibrary.org/obo/GO_0030261 chromosome condensation The compaction of chromatin during apoptosis. http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/GO_0030316 osteoclast differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/GO_0030323 respiratory tube development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/GO_0030324 lung development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity http://purl.obolibrary.org/obo/GO_0098772 molecular function regulator The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH http://purl.obolibrary.org/obo/GO_0030004 cellular monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/GO_0030849 autosome http://purl.obolibrary.org/obo/GO_0005694 chromosome Any chromosome other than a sex chromosome. http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/GO_0030851 granulocyte differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/GO_0031093 platelet alpha granule lumen http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen The volume enclosed by the membrane of the platelet alpha granule. http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0031143 pseudopodium http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0031268 pseudopodium organization http://purl.obolibrary.org/obo/GO_0120036 plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/GO_0031294 lymphocyte costimulation http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/GO_0031295 T cell costimulation http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization http://purl.obolibrary.org/obo/GO_0051179 localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/GO_0031526 brush border membrane http://purl.obolibrary.org/obo/GO_0031253 cell projection membrane The portion of the plasma membrane surrounding the brush border. http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen http://purl.obolibrary.org/obo/GO_0043233 organelle lumen The volume enclosed by the membrane or protein that forms a vesicle. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0032059 bleb http://purl.obolibrary.org/obo/GO_0120025 plasma membrane bounded cell projection A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/GO_0032060 bleb assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/GO_0032355 response to estradiol http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/GO_0032394 MHC class Ib receptor activity http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/GO_0032496 response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/GO_0032504 multicellular organism reproduction http://purl.obolibrary.org/obo/GO_0032501 multicellular organismal process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/GO_0032543 mitochondrial translation http://purl.obolibrary.org/obo/GO_0006412 translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/GO_0032609 type II interferon production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/GO_0032611 interleukin-1 beta production http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/GO_0032612 interleukin-1 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/GO_0032635 interleukin-6 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0032637 interleukin-8 production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0032640 tumor necrosis factor production http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/GO_0032838 plasma membrane bounded cell projection cytoplasm http://purl.obolibrary.org/obo/GO_0099568 cytoplasmic region All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0032868 response to insulin http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0032943 mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070661 leukocyte proliferation The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/GO_0032944 regulation of mononuclear cell proliferation http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0033059 cellular pigmentation http://purl.obolibrary.org/obo/GO_0043473 pigmentation The deposition or aggregation of coloring matter in a cell. http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination http://purl.obolibrary.org/obo/GO_0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination http://purl.obolibrary.org/obo/GO_0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle http://purl.obolibrary.org/obo/GO_0008104 protein localization A process in which a protein is transported to, or maintained in, a location within an organelle. http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0033500 carbohydrate homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/GO_0033674 positive regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/GO_0034097 response to cytokine http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis http://purl.obolibrary.org/obo/GO_0002262 myeloid cell homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/GO_0034774 secretory granule lumen http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen The volume enclosed by the membrane of a secretory granule. http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/GO_0035869 ciliary transition zone http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0040011 locomotion http://purl.obolibrary.org/obo/GO_0008150 biological_process Self-propelled movement of a cell or organism from one location to another. http://purl.obolibrary.org/obo/GO_0042129 regulation of T cell proliferation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell proliferation. http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0042287 MHC protein binding http://purl.obolibrary.org/obo/GO_0005102 signaling receptor binding Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/GO_0042554 superoxide anion generation http://purl.obolibrary.org/obo/GO_0006801 superoxide metabolic process The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex http://purl.obolibrary.org/obo/GO_0098797 plasma membrane protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/GO_0043062 extracellular structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/GO_0043233 organelle lumen http://purl.obolibrary.org/obo/GO_0031974 membrane-enclosed lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/GO_0043434 response to peptide hormone http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/GO_0043473 pigmentation http://purl.obolibrary.org/obo/GO_0008150 biological_process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0044057 regulation of system process http://purl.obolibrary.org/obo/GO_0051239 regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/GO_0044093 positive regulation of molecular function http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0044782 cilium organization http://purl.obolibrary.org/obo/GO_0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0045168 cell-cell signaling involved in cell fate commitment http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0045202 synapse http://purl.obolibrary.org/obo/GO_0030054 cell junction The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0045580 regulation of T cell differentiation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell differentiation. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/GO_0045619 regulation of lymphocyte differentiation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/GO_0045935 positive regulation of nucleobase-containing compound metabolic process http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/GO_0048010 vascular endothelial growth factor receptor signaling pathway http://purl.obolibrary.org/obo/GO_0007169 transmembrane receptor protein tyrosine kinase signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0048534 hematopoietic or lymphoid organ development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process http://purl.obolibrary.org/obo/GO_1901605 alpha-amino acid metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/GO_0050670 regulation of lymphocyte proliferation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte proliferation. http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/GO_0050870 positive regulation of T cell activation http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051099 positive regulation of binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051173 positive regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051179 localization http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/GO_0051235 maintenance of location http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0002694 regulation of leukocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/GO_0051251 positive regulation of lymphocyte activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0051347 positive regulation of transferase activity http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051453 regulation of intracellular pH http://purl.obolibrary.org/obo/GO_0030641 regulation of cellular pH Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/GO_0051648 vesicle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/GO_0051656 establishment of organelle localization http://purl.obolibrary.org/obo/GO_0051640 organelle localization The directed movement of an organelle to a specific location. http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0051674 localization of cell http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which a cell is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0055080 cation homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0060205 cytoplasmic vesicle lumen http://purl.obolibrary.org/obo/GO_0031983 vesicle lumen The volume enclosed by a cytoplasmic vesicle. http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0060986 endocrine hormone secretion http://purl.obolibrary.org/obo/GO_0046879 hormone secretion The regulated release of a hormone into the circulatory system. http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/GO_0065010 extracellular membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0070085 glycosylation http://purl.obolibrary.org/obo/GO_0008152 metabolic process The covalent attachment and further modification of carbohydrate residues to a substrate molecule. http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/GO_0070663 regulation of leukocyte proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/GO_0071222 cellular response to lipopolysaccharide http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/GO_0071345 cellular response to cytokine stimulus http://purl.obolibrary.org/obo/GO_0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/GO_0071356 cellular response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/GO_0071495 cellular response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/GO_0071706 tumor necrosis factor superfamily cytokine production http://purl.obolibrary.org/obo/GO_0001816 cytokine production The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/GO_0071826 protein-RNA complex organization http://purl.obolibrary.org/obo/GO_0043933 protein-containing complex organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size http://purl.obolibrary.org/obo/GO_0065008 regulation of biological quality Any process that modulates the size of an anatomical structure. http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0097708 intracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the intracellular region. http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/GO_0097722 sperm motility http://purl.obolibrary.org/obo/GO_0048870 cell motility Any process involved in the controlled movement of a sperm cell. http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/GO_0099503 secretory vesicle http://purl.obolibrary.org/obo/GO_0031410 cytoplasmic vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/GO_1901652 response to peptide http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation http://purl.obolibrary.org/obo/GO_0002521 leukocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A macromolecular complex that contains both RNA and protein molecules. http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/GO_2000145 regulation of cell motility http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that modulates the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/GO_2000147 positive regulation of cell motility http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell motility. http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/GO_0034612 response to tumor necrosis factor http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/GO_0035148 tube formation http://purl.obolibrary.org/obo/GO_0048646 anatomical structure formation involved in morphogenesis Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/GO_0035369 pre-B cell receptor complex http://purl.obolibrary.org/obo/GO_0098796 membrane protein complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/GO_0035592 establishment of protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization The directed movement of a protein to a specific location within the extracellular region. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/GO_0035735 intraciliary transport involved in cilium assembly http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0030073 insulin secretion The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell The regulated release of any steroid that acts as a hormone into the circulatory system. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion http://purl.obolibrary.org/obo/GO_0035929 steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/GO_0035931 mineralocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion http://purl.obolibrary.org/obo/GO_0035930 corticosteroid hormone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/GO_0036057 slit diaphragm http://purl.obolibrary.org/obo/GO_0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/GO_0040016 embryonic cleavage http://purl.obolibrary.org/obo/GO_0051301 cell division The first few specialized divisions of an activated animal egg. http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/GO_0040017 positive regulation of locomotion http://purl.obolibrary.org/obo/GO_0040012 regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/GO_0042073 intraciliary transport http://purl.obolibrary.org/obo/GO_0031503 protein-containing complex localization The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/GO_0042105 alpha-beta T cell receptor complex http://purl.obolibrary.org/obo/GO_0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/GO_0042157 lipoprotein metabolic process http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/GO_0042582 azurophil granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0042613 MHC class II protein complex http://purl.obolibrary.org/obo/GO_0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/GO_0042802 identical protein binding http://purl.obolibrary.org/obo/GO_0005515 protein binding Interacting selectively and non-covalently with an identical protein or proteins. http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/GO_0042803 protein homodimerization activity http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity Interacting selectively and non-covalently with an identical protein to form a homodimer. http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/GO_0043202 lysosomal lumen http://purl.obolibrary.org/obo/GO_0005775 vacuolar lumen The volume enclosed within the lysosomal membrane. http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/GO_0043229 intracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/GO_0043230 extracellular organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/GO_0043384 pre-T cell receptor complex http://purl.obolibrary.org/obo/GO_0098802 plasma membrane signaling receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. http://purl.obolibrary.org/obo/GO_0043388 positive regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion http://purl.obolibrary.org/obo/GO_0035933 glucocorticoid secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/GO_0043491 protein kinase B signaling http://purl.obolibrary.org/obo/GO_0035556 intracellular signal transduction A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/GO_0043551 regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/GO_0043552 positive regulation of phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/GO_0044207 translation initiation ternary complex http://purl.obolibrary.org/obo/GO_1990904 ribonucleoprotein complex A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus http://purl.obolibrary.org/obo/GO_0046323 glucose import The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/GO_0045017 glycerolipid biosynthetic process http://purl.obolibrary.org/obo/GO_0046486 glycerolipid metabolic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0045058 T cell selection http://purl.obolibrary.org/obo/GO_0002376 immune system process The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/GO_0045121 membrane raft http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/GO_0045190 isotype switching http://purl.obolibrary.org/obo/GO_0002312 B cell activation involved in immune response The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/GO_0045453 bone resorption http://purl.obolibrary.org/obo/GO_0001894 tissue homeostasis The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/GO_0045766 positive regulation of angiogenesis http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0045937 positive regulation of phosphate metabolic process http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://purl.obolibrary.org/obo/GO_0046323 glucose import http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport The directed movement of the hexose monosaccharide glucose into a cell or organelle. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/GO_0046849 bone remodeling http://purl.obolibrary.org/obo/GO_0048771 tissue remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/GO_0046983 protein dimerization activity http://purl.obolibrary.org/obo/GO_0005515 protein binding The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048018 receptor ligand activity http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://purl.obolibrary.org/obo/GO_0048103 somatic stem cell division http://purl.obolibrary.org/obo/GO_0017145 stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi http://purl.obolibrary.org/obo/GO_0006903 vesicle targeting The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/GO_0050863 regulation of T cell activation http://purl.obolibrary.org/obo/GO_0051249 regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of T cell activation. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/GO_0051098 regulation of binding http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://purl.obolibrary.org/obo/GO_0051101 regulation of DNA binding http://purl.obolibrary.org/obo/GO_0051098 regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/GO_0051338 regulation of transferase activity http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0051704 multi-organism process http://purl.obolibrary.org/obo/GO_0008150 biological_process A biological process which involves another organism of the same or different species. http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/GO_0055076 transition metal ion homeostasis http://purl.obolibrary.org/obo/GO_0055065 metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060271 cilium assembly http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/GO_0060348 bone development http://purl.obolibrary.org/obo/GO_0048513 animal organ development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0070293 renal absorption http://purl.obolibrary.org/obo/GO_0003014 renal system process A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/GO_0070295 renal water absorption http://purl.obolibrary.org/obo/GO_0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/GO_0071396 cellular response to lipid http://purl.obolibrary.org/obo/GO_0033993 response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071417 cellular response to organonitrogen compound http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/GO_0071453 cellular response to oxygen levels http://purl.obolibrary.org/obo/GO_0070887 cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071692 protein localization to extracellular region http://purl.obolibrary.org/obo/GO_0008104 protein localization Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://purl.obolibrary.org/obo/GO_0090218 positive regulation of lipid kinase activity http://purl.obolibrary.org/obo/GO_0043550 regulation of lipid kinase activity Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/GO_0090596 sensory organ morphogenesis http://purl.obolibrary.org/obo/GO_0009887 animal organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which an inorganic anion is transported across a membrane. http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/GO_0098794 postsynapse http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The part of a synapse that is part of the post-synaptic cell. http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/GO_0098857 membrane microdomain http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development http://purl.obolibrary.org/obo/GO_2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of vasculature development. http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/GO_1901699 cellular response to nitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_1903706 regulation of hemopoiesis http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development Any process that modulates the frequency, rate or extent of hemopoiesis. http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/GO_1904018 positive regulation of vasculature development http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0097254 renal tubular secretion http://purl.obolibrary.org/obo/GO_0003014 renal system process The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/GO_0097427 microtubule bundle http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity An arrangement of closely apposed microtubules running parallel to each other. http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_0097478 leaflet of membrane bilayer http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity Any of the two layers of lipid molecules that constitute a membrane. http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/GO_0097711 ciliary basal body-plasma membrane docking http://purl.obolibrary.org/obo/GO_0140056 organelle localization by membrane tethering The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0098644 complex of collagen trimers http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A complex of collagen trimers such as a fibril or collagen network. http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/GO_0098660 inorganic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/GO_0099081 supramolecular polymer http://purl.obolibrary.org/obo/GO_0099080 supramolecular complex A polymeric supramolecular structure. http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling http://purl.obolibrary.org/obo/GO_0007267 cell-cell signaling Cell-cell signaling to, from or within a synapse. http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/GO_0099537 trans-synaptic signaling http://purl.obolibrary.org/obo/GO_0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/PR_000001002 CD19 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/PR_000001003 CD34 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain http://purl.obolibrary.org/obo/PR_000025796 integrin alpha An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001006 receptor-type tyrosine-protein phosphatase C http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/PR_000001008 integrin alpha-2 http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/PR_000001012 integrin alpha-M http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/PR_000001013 integrin alpha-X http://purl.obolibrary.org/obo/PR_000001005 integrin alpha with A domain An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/PR_000001015 receptor-type tyrosine-protein phosphatase C isoform CD45RA http://purl.obolibrary.org/obo/PR_000050216 receptor-type tyrosine-protein phosphatase C isoform CD45R A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/PR_000001020 CD3 epsilon http://purl.obolibrary.org/obo/PR_000001018 CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM http://purl.obolibrary.org/obo/PR_000001022 neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001024 neural cell adhesion molecule 1 http://purl.obolibrary.org/obo/PR_000001023 neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/PR_000001083 CD2 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001119 animal opsin http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/PR_000001199 C-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/PR_000001222 endothelin receptor type B http://purl.obolibrary.org/obo/PR_000001094 rhodopsin-like G-protein coupled receptor An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/PR_000001224 medium-wave-sensitive opsin http://purl.obolibrary.org/obo/PR_000001119 animal opsin An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor http://purl.obolibrary.org/obo/PR_000001128 chemokine receptor A chemokine receptor whose active form binds interleukin-8 with high affinity. http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/PR_000001255 C-C chemokine receptor type 3 http://purl.obolibrary.org/obo/PR_000001197 chemokine receptor CCR1/3/1L A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/PR_000001256 C-X-C chemokine receptor type 1 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001257 C-X-C chemokine receptor type 2 http://purl.obolibrary.org/obo/PR_000001226 high affinity interleukin-8 receptor A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/PR_000001289 membrane-spanning 4-domains subfamily A member 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/PR_000001300 CD209 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/PR_000001307 CD44 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/PR_000001327 cadherin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/PR_000001332 carcinoembryonic antigen-related cell adhesion molecule 8 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/PR_000001344 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/PR_000001376 interleukin-18 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/PR_000001380 interleukin-2 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/PR_000001381 interleukin-2 receptor subunit beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/PR_000001395 interleukin-8 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/PR_000001403 tetraspanin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_000001408 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 http://purl.obolibrary.org/obo/PR_000001281 ADP-ribosyl cyclase An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/PR_000001444 cadherin-5 http://purl.obolibrary.org/obo/PR_000001327 cadherin A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/PR_000001456 alpha-(1,3)-fucosyltransferase 4 http://purl.obolibrary.org/obo/PR_000001320 alpha-(1,3)-fucosyltransferase An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/PR_000001471 interleukin-10 http://purl.obolibrary.org/obo/PR_000000001 protein A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/PR_000001479 low affinity immunoglobulin gamma Fc region receptor II http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/PR_000001483 low affinity immunoglobulin gamma Fc region receptor III http://purl.obolibrary.org/obo/PR_000001355 immunoglobulin gamma Fc receptor II/III/IV An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001785 prominin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/PR_000001786 prominin-1 http://purl.obolibrary.org/obo/PR_000001785 prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/PR_000001809 CD59-like glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/PR_000001813 adhesion G protein-coupled receptor E1 http://purl.obolibrary.org/obo/PR_000001087 adhesion G-protein coupled receptor An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001836 CD7 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/PR_000001839 T-cell surface glycoprotein CD5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/PR_000001843 Thy-1 membrane glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001844 arginase-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000001850 cathepsin K http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/PR_000001861 integrin beta http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/PR_000001865 interleukin-3 receptor class 2 alpha chain http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/PR_000001867 interleukin-5 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/PR_000001868 interleukin-6 receptor subunit beta http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/PR_000001869 interleukin-7 receptor subunit alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/PR_000001874 KLRB1-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/PR_000001879 leukosialin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://purl.obolibrary.org/obo/PR_000001889 CD14 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/PR_000001892 CD33 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/PR_000001898 neprilysin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/PR_000001903 paired box protein PAX-5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/PR_000001905 platelet glycoprotein 4 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/PR_000001932 signal transducer CD24 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/PR_000001935 syndecan-1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/PR_000001937 tartrate-resistant acid phosphatase type 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/PR_000001944 transcription factor PU.1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/PR_000001945 transferrin receptor protein 1 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/PR_000001950 tumor necrosis factor ligand superfamily member 5 http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/PR_000001954 tumor necrosis factor receptor superfamily member 11A http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/PR_000001963 CD27 molecule http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/PR_000001969 urokinase plasminogen activator surface receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000002025 T-cell surface glycoprotein CD1a http://purl.obolibrary.org/obo/PR_000001838 T-cell surface glycoprotein CD1 A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/PR_000002062 macrophage colony-stimulating factor 1 receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/PR_000002064 macrosialin http://purl.obolibrary.org/obo/PR_000001883 lysosome-associated membrane protein A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/PR_000002065 mast/stem cell growth factor receptor http://purl.obolibrary.org/obo/PR_000001810 CSF-1/PDGF receptor-type tyrosine-protein kinase A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/PR_000002112 vascular endothelial growth factor receptor 2 http://purl.obolibrary.org/obo/PR_000001971 vascular endothelial growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/PR_000002972 macrophage mannose receptor 1 http://purl.obolibrary.org/obo/PR_000001025 C-type lectin with multiple lectin domains A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/PR_000002978 lymphocyte antigen 6G http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/PR_000002979 lymphocyte antigen 6A-2/6E-1 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/PR_000002980 lymphocyte antigen 6C2 http://purl.obolibrary.org/obo/PR_000002976 Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/PR_000002981 lymphocyte antigen 76 (mouse) http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein A protein that is a translation product of the Ly76 gene in mouse. http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/PR_000003262 collagen alpha chain http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/PR_000018263 amino acid chain http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/PR_000018264 proteolytic cleavage product http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is produced as the result of proteolytic processing of a longer protein. http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/BFO_0000040 material entity A part of a protein that is removed during the protein maturation process. http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/PR_000025796 integrin alpha http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/PR_000025875 serpin http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/PR_000030035 G-protein coupled receptor http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is encoded in the genome of some Eukaryota. http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/PR_000037069 glycoprotein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/PR_000040662 cathepsin-like protease http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/PR_000024649 alkaline phosphatase, signal peptide removed form http://purl.obolibrary.org/obo/PR_000000001 protein An alkaline phosphatase that has had the signal peptide removed. http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 http://purl.obolibrary.org/obo/PR_000001084 T-cell surface glycoprotein CD8 alpha chain A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 http://purl.obolibrary.org/obo/PR_000001085 T-cell surface glycoprotein CD8 beta chain A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025403 T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form http://purl.obolibrary.org/obo/PR_000025405 T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/PR_000025408 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025406 T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/PR_000025409 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form http://purl.obolibrary.org/obo/PR_000025407 T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/PR_000029032 Mus musculus protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Mus musculus. http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein http://purl.obolibrary.org/obo/PR_000036194 eukaryotic protein A protein that is encoded in the genome of Homo sapiens. http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P11215 integrin alpha-M (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An integrin alpha-M that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/PR_P01019 angiotensinogen (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An angiotensinogen that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/PR_P01732 T-cell surface glycoprotein CD8 alpha chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/PR_P02786 transferrin receptor protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transferrin receptor protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/PR_P06126 T-cell surface glycoprotein CD1a (human) http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/PR_P08473 neprilysin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neprilysin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/PR_P08670 vimentin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vimentin that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/PR_P10966 T-cell surface glycoprotein CD8 beta chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/PR_P13500 C-C motif chemokine 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C motif chemokine 2 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/PR_P13686 tartrate-resistant acid phosphatase type 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/PR_P16671 platelet glycoprotein 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A platelet glycoprotein 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P17542 T-cell acute lymphocytic leukemia protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/PR_P20908 collagen alpha-1(V) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(V) chain that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/PR_P28799 progranulin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A progranulin that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/PR_P33151 cadherin-5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A cadherin-5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/PR_P35968 vascular endothelial growth factor receptor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/PR_P41180 extracellular calcium-sensing receptor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular calcium-sensing receptor that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/PR_P49715 CCAAT/enhancer-binding protein alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q00653 nuclear factor NF-kappa-B p100 subunit (human) http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/PR_Q07092 collagen alpha-1(XVI) chain (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A collagen alpha-1(XVI) chain that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/PR_Q15848 adiponectin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adiponectin that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/PR_Q16665 hypoxia-inducible factor 1-alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/PR_O14638 ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/PR_O15353 forkhead box protein N1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A forkhead box protein N1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/PR_P16860 natriuretic peptides B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A natriuretic peptides B that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://purl.obolibrary.org/obo/PR_P16870 carboxypeptidase E (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A carboxypeptidase E that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/PR_P17947 transcription factor PU.1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor PU.1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/PR_P18283 glutathione peroxidase 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A glutathione peroxidase 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/PR_P21579 synaptotagmin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A synaptotagmin-1 that is encoded in the genome of human. http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/PR_P21757 macrophage scavenger receptor types I and II (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A macrophage scavenger receptor types I and II that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/PR_P22083 alpha-(1,3)-fucosyltransferase 4 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P22301 interleukin-10 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-10 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P23769 endothelial transcription factor GATA-2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An endothelial transcription factor GATA-2 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/PR_P24468 COUP transcription factor 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A COUP transcription factor 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11509 SYT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SYT1 in human. http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11916 TNFRSF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1A in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11917 TNFRSF1B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene TNFRSF1B in human. http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12663 VCAM1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VCAM1 in human. http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2209 COL5A1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene COL5A1 in human. http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2303 CPE (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CPE in human. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4554 GPX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPX2 in human. http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5962 IL10 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene IL10 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7376 MSR1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MSR1 in human. http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7940 NPPB (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPPB in human. http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7976 NR2F2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NR2F2 in human. http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/PR_P54802 alpha-N-acetylglucosaminidase (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An alpha-N-acetylglucosaminidase that is encoded in the genome of human. http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/PR_P55895 V(D)J recombination-activating protein 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 2 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/PR_P58304 visual system homeobox 2 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A visual system homeobox 2 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1975 VSX2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VSX2 in human. http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7632 NAGLU (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NAGLU in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/PR_Q13445 transmembrane emp24 domain-containing protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/PR_Q14246 adhesion G protein-coupled receptor E1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/PR_Q15465 sonic hedgehog protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sonic hedgehog protein that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 ADIPOQ (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADIPOQ in human. http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4910 HIF1A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene HIF1A in human. http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/PR_Q68D86 coiled-coil domain-containing protein 102B (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A coiled-coil domain-containing protein 102B that is encoded in the genome of human. http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26295 CCDC102B (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCDC102B in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/PR_Q96PD6 2-acylglycerol O-acyltransferase 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/PR_Q99250 sodium channel protein type 2 subunit alpha (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/PR_Q99581 protein FEV (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A protein FEV that is encoded in the genome of human. http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10588 SCN2A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SCN2A in human. http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18210 MOGAT1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene MOGAT1 in human. http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18562 FEV (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FEV in human. http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/PR_Q9H6B4 CXADR-like membrane protein (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adipocyte adhesion molecule that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/PR_Q9H6I2 transcription factor SOX-17 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A transcription factor SOX-17 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10250 ROBO2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ROBO2 in human. http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18122 SOX17 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SOX17 in human. http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24039 CLMP (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CLMP in human. http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3680 FGF23 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene FGF23 in human. http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/PR_Q9UEF7 klotho (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A klotho that is encoded in the genome of human. http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6344 KL (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KL in human. http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/ENVO_00000009 national geopolitical entity http://purl.obolibrary.org/obo/ENVO_00000123 political entity A political association with effective dominion over a geographic area. http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/ENVO_00000123 political entity http://purl.obolibrary.org/obo/ENVO_00000004 administrative region A geographical region whose affairs and population are administered by an authority. http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/ENVO_01000254 environmental system http://purl.obolibrary.org/obo/RO_0002577 system A system which has the disposition to environ one or more material entities. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone http://purl.obolibrary.org/obo/BFO_0000029 site A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/ENVO_01000799 astronomical body http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/BFO_0000024 fiat object part A material part of an astronomical body. http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process http://purl.obolibrary.org/obo/BFO_0000015 process A process in which includes the components of an environmental system as participants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002577 system http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity consisting of multiple components that are causally integrated. http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CL_0008024 pancreatic endocrine cell http://purl.obolibrary.org/obo/CL_0000163 endocrine cell An endocrine cell that is part of the pancreas. http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000003 native cell A cell that, by division or terminal differentiation, can give rise to other cell types. http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/CP_0000000 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CP_0000027 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/CP_0000028 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/CP_0000035 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/CP_0000037 increased nucleus size http://purl.obolibrary.org/obo/GO_0005634 nucleus A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000001 region A region defined by its disposition to be involved in a biological process. http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/HP_0025327 Decreased renal parenchymal thickness http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0025359 Polygonal renal calices http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/HP_0025360 Polycalycosis http://purl.obolibrary.org/obo/HP_0011130 Abnormal renal calyx morphology Increased number of calices of the kidney. http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology http://purl.obolibrary.org/obo/HP_0100957 Abnormal renal medulla morphology A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0025362 Renal medullary pyramid hypoplasia http://purl.obolibrary.org/obo/HP_0025361 Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0025364 Glomerular extracapillary hypercellularity http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/FOODON_03411041 chemical food component http://purl.obolibrary.org/obo/FOODON_00001714 food product component Any chemical or chemical mixture that exists in a food material or was added to a food material. http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/FOODON_03420122 nonmeat part of animal http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part Bone, feathers, shell, skin or trim fat. http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/FOODON_03420127 animal body or body part http://purl.obolibrary.org/obo/FOODON_03420164 part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/FOODON_03420164 part of animal http://purl.obolibrary.org/obo/FOODON_03420116 part of organism Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/GO_0140029 exocytic process http://purl.obolibrary.org/obo/GO_0009987 cellular process The cellular processes that contribute to exocytosis. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/FOODON_00001714 food product component http://purl.obolibrary.org/obo/FOODON_00001002 food product A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm arising during childhood. http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0024575 pregnancy disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/ENVO_01001480 domestic building http://purl.obolibrary.org/obo/ENVO_00000073 building A building which is primarily used for the long-term habitation of humans. http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/MONDO_0100156 Imerslund-Grasbeck syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/MONDO_0100161 hyperkalemic renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/HP_0025648 Steroid-sensitive nephrotic syndrome with infrequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/HP_0025649 Steroid-sensitive nephrotic syndrome with frequent relapses http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/HP_0025650 Steroid-dependent nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality http://purl.obolibrary.org/obo/PATO_0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/PATO_0070046 neutrophillic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PATO_0070047 polychromatophilic http://purl.obolibrary.org/obo/PATO_0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/PATO_0040072 high nuclear/cytoplasmic ratio http://purl.obolibrary.org/obo/PATO_0001396 cellular quality A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/GO_0008219 cell death http://purl.obolibrary.org/obo/GO_0009987 cellular process Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). http://purl.obolibrary.org/obo/GO_0008285 negative regulation of cell population proliferation http://purl.obolibrary.org/obo/GO_0042127 regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. http://purl.obolibrary.org/obo/GO_0008645 hexose transmembrane transport http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. http://purl.obolibrary.org/obo/GO_0009056 catabolic process http://purl.obolibrary.org/obo/GO_0008152 metabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0006753 nucleoside phosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/GO_0009142 nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/GO_0009145 purine nucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009144 purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009150 purine ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009141 nucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process http://purl.obolibrary.org/obo/GO_0033013 tetrapyrrole metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process http://purl.obolibrary.org/obo/GO_0019693 ribose phosphate metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/GO_0009260 ribonucleotide biosynthetic process http://purl.obolibrary.org/obo/GO_0009259 ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/GO_0009615 response to virus http://purl.obolibrary.org/obo/GO_0051707 response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus http://purl.obolibrary.org/obo/GO_0050896 response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/GO_0009725 response to hormone http://purl.obolibrary.org/obo/GO_0009719 response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate http://purl.obolibrary.org/obo/GO_1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/GO_0009746 response to hexose http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/GO_0009749 response to glucose http://purl.obolibrary.org/obo/GO_0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/GO_0009790 embryo development http://purl.obolibrary.org/obo/GO_0007275 multicellular organism development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/GO_0009889 regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/GO_0009891 positive regulation of biosynthetic process http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. http://purl.obolibrary.org/obo/GO_0009893 positive regulation of metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/GO_0009897 external side of plasma membrane http://purl.obolibrary.org/obo/GO_0098552 side of membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/GO_0009925 basal plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/GO_0009986 cell surface http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The external part of the cell wall and/or plasma membrane. http://purl.obolibrary.org/obo/GO_0009992 cellular water homeostasis http://purl.obolibrary.org/obo/GO_0030104 water homeostasis Any process involved in the maintenance of an internal steady state of water within a cell. http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. http://purl.obolibrary.org/obo/GO_0010562 positive regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://purl.obolibrary.org/obo/GO_0010628 positive regulation of gene expression http://purl.obolibrary.org/obo/GO_0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/GO_0010647 positive regulation of cell communication http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/GO_0012506 vesicle membrane http://purl.obolibrary.org/obo/GO_0031090 organelle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/GO_0014031 mesenchymal cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/GO_0014033 neural crest cell differentiation http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/GO_0014065 phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/GO_0014066 regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/GO_0014068 positive regulation of phosphatidylinositol 3-kinase signaling http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/GO_0014070 response to organic cyclic compound http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0008509 anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/GO_0015168 glycerol transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015144 carbohydrate transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/GO_0015204 urea transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0042887 amide transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/GO_0015250 water channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/GO_0015254 glycerol channel activity http://purl.obolibrary.org/obo/GO_0015267 channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/GO_0015267 channel activity http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/GO_0015318 inorganic molecular entity transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/GO_0015669 gas transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport http://purl.obolibrary.org/obo/GO_0030001 metal ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/GO_0015701 bicarbonate transport http://purl.obolibrary.org/obo/GO_0015711 organic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport http://purl.obolibrary.org/obo/GO_0015849 organic acid transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/GO_0015749 monosaccharide transmembrane transport http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/GO_0015760 glucose-6-phosphate transport http://purl.obolibrary.org/obo/GO_0015712 hexose phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/GO_0015791 polyol transport http://purl.obolibrary.org/obo/GO_0015850 organic hydroxy compound transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/GO_0015793 glycerol transport http://purl.obolibrary.org/obo/GO_0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/GO_0015840 urea transport http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/GO_0015849 organic acid transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/GO_0015985 energy coupled proton transport, down electrochemical gradient http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/GO_0016054 organic acid catabolic process http://purl.obolibrary.org/obo/GO_0044282 small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process http://purl.obolibrary.org/obo/GO_1901615 organic hydroxy compound metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. http://purl.obolibrary.org/obo/GO_0016323 basolateral plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/GO_0016324 apical plasma membrane http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region The region of the plasma membrane located at the apical end of the cell. http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/GO_0016772 transferase activity, transferring phosphorus-containing groups http://purl.obolibrary.org/obo/GO_0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/GO_0017145 stem cell division http://purl.obolibrary.org/obo/GO_0051301 cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/GO_0018193 peptidyl-amino acid modification http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The alteration of an amino acid residue in a peptide. http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/GO_0018215 protein phosphopantetheinylation http://purl.obolibrary.org/obo/GO_0006464 cellular protein modification process The modification of a protein amino acid by phosphopantetheinylation. http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/GO_0019755 one-carbon compound transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/GO_0019915 lipid storage http://purl.obolibrary.org/obo/GO_0051235 maintenance of location The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/GO_0022406 membrane docking http://purl.obolibrary.org/obo/GO_0009987 cellular process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://purl.obolibrary.org/obo/GO_0022803 passive transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022857 transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/GO_0030104 water homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0030198 extracellular matrix organization http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/GO_0030225 macrophage differentiation http://purl.obolibrary.org/obo/GO_1903131 mononuclear cell differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/GO_0030546 signaling receptor activator activity http://purl.obolibrary.org/obo/GO_0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/GO_0030705 cytoskeleton-dependent intracellular transport http://purl.obolibrary.org/obo/GO_0046907 intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/GO_0031090 organelle membrane http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/GO_0031224 intrinsic component of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0031982 vesicle http://purl.obolibrary.org/obo/GO_0043227 membrane-bounded organelle Any small, fluid-filled, spherical organelle enclosed by membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/GO_0032535 regulation of cellular component size http://purl.obolibrary.org/obo/GO_0090066 regulation of anatomical structure size A process that modulates the size of a cellular component. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/GO_0032869 cellular response to insulin stimulus http://purl.obolibrary.org/obo/GO_0071375 cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0032870 cellular response to hormone stimulus http://purl.obolibrary.org/obo/GO_0009725 response to hormone Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/GO_0032879 regulation of localization http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/GO_0033993 response to lipid http://purl.obolibrary.org/obo/GO_0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0034219 carbohydrate transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which a carbohydrate is transported across a membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport http://purl.obolibrary.org/obo/GO_0055085 transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/GO_0034284 response to monosaccharide http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/GO_0035004 phosphatidylinositol 3-kinase activity http://purl.obolibrary.org/obo/GO_0016301 kinase activity Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/GO_0042493 response to drug http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/GO_0042742 defense response to bacterium http://purl.obolibrary.org/obo/GO_0009617 response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/GO_0043200 response to amino acid http://purl.obolibrary.org/obo/GO_0010243 response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/GO_0043228 non-membrane-bounded organelle http://purl.obolibrary.org/obo/GO_0043226 organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/GO_0044085 cellular component biogenesis http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/GO_0044419 biological process involved in interspecies interaction between organisms http://purl.obolibrary.org/obo/GO_0008150 biological_process Any process evolved to enable an interaction with an organism of a different species. http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/GO_0045177 apical part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GO_0045178 basal part of cell http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization http://purl.obolibrary.org/obo/GO_0051234 establishment of localization The directed movement of a protein to a specific location. http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/GO_0045229 external encapsulating structure organization http://purl.obolibrary.org/obo/GO_0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation http://purl.obolibrary.org/obo/GO_0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/GO_0045765 regulation of angiogenesis http://purl.obolibrary.org/obo/GO_1901342 regulation of vasculature development Any process that modulates the frequency, rate or extent of angiogenesis. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/GO_0045785 positive regulation of cell adhesion http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of cell adhesion. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/GO_0046467 membrane lipid biosynthetic process http://purl.obolibrary.org/obo/GO_0044249 cellular biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/GO_0046854 phosphatidylinositol phosphorylation http://purl.obolibrary.org/obo/GO_0046834 lipid phosphorylation The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0048015 phosphatidylinositol-mediated signaling http://purl.obolibrary.org/obo/GO_0048017 inositol lipid-mediated signaling A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0048522 positive regulation of cellular process http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0048863 stem cell differentiation http://purl.obolibrary.org/obo/GO_0030154 cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/GO_0048864 stem cell development http://purl.obolibrary.org/obo/GO_0048468 cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis http://purl.obolibrary.org/obo/GO_0042592 homeostatic process Any biological process involved in the maintenance of an internal steady state of a chemical. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/GO_0050790 regulation of catalytic activity http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function Any process that modulates the activity of an enzyme. http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/GO_0051171 regulation of nitrogen compound metabolic process http://purl.obolibrary.org/obo/GO_0019222 regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/GO_0051174 regulation of phosphorus metabolic process http://purl.obolibrary.org/obo/GO_0031323 regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/GO_0051180 vitamin transport http://purl.obolibrary.org/obo/GO_0006810 transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/GO_0051640 organelle localization http://purl.obolibrary.org/obo/GO_0051179 localization Any process in which an organelle is transported to, and/or maintained in, a specific location. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0055081 anion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/GO_0060284 regulation of cell development http://purl.obolibrary.org/obo/GO_0045595 regulation of cell differentiation Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/GO_0065009 regulation of molecular function http://purl.obolibrary.org/obo/GO_0065007 biological regulation Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/GO_0070727 cellular macromolecule localization http://purl.obolibrary.org/obo/GO_0051641 cellular localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus http://purl.obolibrary.org/obo/GO_0009743 response to carbohydrate Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/GO_0071333 cellular response to glucose stimulus http://purl.obolibrary.org/obo/GO_0071331 cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/GO_0071840 cellular component organization or biogenesis http://purl.obolibrary.org/obo/GO_0009987 cellular process A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/GO_0071918 urea transmembrane transport http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/GO_0072507 divalent inorganic cation homeostasis http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/GO_0098552 side of membrane http://purl.obolibrary.org/obo/GO_0110165 cellular anatomical entity A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/GO_0098590 plasma membrane region http://purl.obolibrary.org/obo/GO_0016020 membrane A membrane that is a (regional) part of the plasma membrane. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/GO_0098609 cell-cell adhesion http://purl.obolibrary.org/obo/GO_0007155 cell adhesion The attachment of one cell to another cell via adhesion molecules. http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/GO_0098655 cation transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which a cation is transported across a membrane. http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/GO_0098656 anion transmembrane transport http://purl.obolibrary.org/obo/GO_0034220 monoatomic ion transmembrane transport The process in which an anion is transported across a membrane. http://purl.obolibrary.org/obo/GO_0099111 microtubule-based transport http://purl.obolibrary.org/obo/GO_0006810 transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. http://purl.obolibrary.org/obo/GO_1901264 carbohydrate derivative transport http://purl.obolibrary.org/obo/GO_0071702 organic substance transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. http://purl.obolibrary.org/obo/GO_1901293 nucleoside phosphate biosynthetic process http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. http://purl.obolibrary.org/obo/GO_1901698 response to nitrogen compound http://purl.obolibrary.org/obo/GO_0042221 response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. http://purl.obolibrary.org/obo/GO_1902476 chloride transmembrane transport http://purl.obolibrary.org/obo/GO_0098661 inorganic anion transmembrane transport The process in which chloride is transported across a membrane. http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_0009966 regulation of signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_1902533 positive regulation of intracellular signal transduction http://purl.obolibrary.org/obo/GO_1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. http://purl.obolibrary.org/obo/GO_1902600 proton transmembrane transport http://purl.obolibrary.org/obo/GO_0098662 inorganic cation transmembrane transport The directed movement of a proton across a membrane. http://purl.obolibrary.org/obo/GO_1902652 secondary alcohol metabolic process http://purl.obolibrary.org/obo/GO_0006066 alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. http://purl.obolibrary.org/obo/GO_0060073 micturition http://purl.obolibrary.org/obo/GO_0003014 renal system process The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. http://purl.obolibrary.org/obo/GO_0060235 lens induction in camera-type eye http://purl.obolibrary.org/obo/GO_0031128 developmental induction Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. http://purl.obolibrary.org/obo/GO_0060285 cilium-dependent cell motility http://purl.obolibrary.org/obo/GO_0001539 cilium or flagellum-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. http://purl.obolibrary.org/obo/GO_0060294 cilium movement involved in cell motility http://purl.obolibrary.org/obo/GO_0003341 cilium movement Movement of cilia mediated by motor proteins that contributes to the movement of a cell. http://purl.obolibrary.org/obo/GO_0060374 mast cell differentiation http://purl.obolibrary.org/obo/GO_0002573 myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. http://purl.obolibrary.org/obo/GO_0061326 renal tubule development http://purl.obolibrary.org/obo/GO_0060429 epithelium development The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. http://purl.obolibrary.org/obo/GO_0061370 testosterone biosynthetic process http://purl.obolibrary.org/obo/GO_1901617 organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. http://purl.obolibrary.org/obo/GO_0061512 protein localization to cilium http://purl.obolibrary.org/obo/GO_0033365 protein localization to organelle A process in which a protein is transported to, or maintained in, a location within a cilium. http://purl.obolibrary.org/obo/GO_0061702 inflammasome complex http://purl.obolibrary.org/obo/GO_0032991 protein-containing complex A cytosolic protein complex that is capable of activating caspase-1. http://purl.obolibrary.org/obo/GO_0070062 extracellular exosome http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. http://purl.obolibrary.org/obo/GO_0070371 ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0000165 MAPK cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0043408 regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/GO_0070374 positive regulation of ERK1 and ERK2 cascade http://purl.obolibrary.org/obo/GO_0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 http://purl.obolibrary.org/obo/GO_0034097 response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0070820 tertiary granule http://purl.obolibrary.org/obo/GO_0030141 secretory granule A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. http://purl.obolibrary.org/obo/GO_0071219 cellular response to molecule of bacterial origin http://purl.obolibrary.org/obo/GO_0002237 response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/GO_0071326 cellular response to monosaccharide stimulus http://purl.obolibrary.org/obo/GO_0071322 cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/GO_0071347 cellular response to interleukin-1 http://purl.obolibrary.org/obo/GO_0070555 response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/GO_0071456 cellular response to hypoxia http://purl.obolibrary.org/obo/GO_0036294 cellular response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0071707 immunoglobulin heavy chain V-D-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/GO_0071708 immunoglobulin light chain V-J recombination http://purl.obolibrary.org/obo/GO_0033152 immunoglobulin V(D)J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/GO_0071738 IgD immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071753 IgM immunoglobulin complex http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. http://purl.obolibrary.org/obo/GO_0071953 elastic fiber http://purl.obolibrary.org/obo/GO_0099512 supramolecular fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/GO_0071971 extracellular exosome assembly http://purl.obolibrary.org/obo/GO_0070925 organelle assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/GO_0080145 cysteine homeostasis http://purl.obolibrary.org/obo/GO_0080144 amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/GO_0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment http://purl.obolibrary.org/obo/GO_0048199 vesicle targeting, to, from or within Golgi The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0097734 extracellular exosome biogenesis http://purl.obolibrary.org/obo/GO_0140112 extracellular vesicle biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_0098771 inorganic ion homeostasis http://purl.obolibrary.org/obo/GO_0050801 ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/GO_1901653 cellular response to peptide http://purl.obolibrary.org/obo/GO_1901701 cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/GO_1903561 extracellular vesicle http://purl.obolibrary.org/obo/GO_0031982 vesicle Any vesicle that is part of the extracellular region. http://purl.obolibrary.org/obo/GO_1905349 ciliary transition zone assembly http://purl.obolibrary.org/obo/GO_0022607 cellular component assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GO_2001013 epithelial cell proliferation involved in renal tubule morphogenesis http://purl.obolibrary.org/obo/GO_0050673 epithelial cell proliferation Any epithelial cell proliferation that is involved in renal tubule morphogenesis. http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/PR_000008953 insulin-like growth factor-binding protein 7 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/PR_000009143 integrin beta-7 http://purl.obolibrary.org/obo/PR_000001861 integrin beta An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/PR_000009741 L-lactate dehydrogenase A-like 6B http://purl.obolibrary.org/obo/PR_000000001 protein An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/PR_000009978 lactotransferrin http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/PR_000010491 matrix metalloproteinase-9 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/PR_000010543 myeloperoxidase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/PR_000010799 myb proto-oncogene protein http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/PR_000010902 mast cell protease 1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/PR_000011178 nuclear factor NF-kappa-B p100 subunit http://purl.obolibrary.org/obo/PR_000001753 transcription factor NF-kappa-B subunit A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/PR_000013191 peroxiredoxin-1 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/PR_000013825 recombining binding protein suppressor of hairless-like protein http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/PR_000013883 renin http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/PR_000014413 protein S100-A6 http://purl.obolibrary.org/obo/PR_000000001 protein A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/PR_000014706 alpha-2-antiplasmin http://purl.obolibrary.org/obo/PR_000025875 serpin A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_000022001 vertebrate G-type lysozyme http://purl.obolibrary.org/obo/PR_000000001 protein A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/PR_O43272 proline dehydrogenase 1, mitochondrial (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/PR_O43490 prominin-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prominin-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/PR_O60266 adenylate cyclase type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An adenylate cyclase type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/PR_O60500 nephrin (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A nephrin that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=234 ADCY3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene ADCY3 in human. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7908 NPHS1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NPHS1 in human. http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9453 PRODH (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PRODH in human. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/PR_P10145 interleukin-8 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An interleukin-8 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/PR_P13647 keratin, type II cytoskeletal 5 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A keratin, type II cytoskeletal 5 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/PR_P15918 V(D)J recombination-activating protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A V(D)J recombination-activating protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/PR_P15976 erythroid transcription factor (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An erythroid transcription factor that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10618 CCL2 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CCL2 in human. http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12680 VEGFA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene VEGFA in human. http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435 CSF2RA (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CSF2RA in human. http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6025 CXCL8 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene CXCL8 in human. http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6442 KRT5 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene KRT5 in human. http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/PR_P49758 regulator of G-protein signaling 6 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A regulator of G-protein signaling 6 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/PR_P51674 neuronal membrane glycoprotein M6-a (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/PR_P51677 C-C chemokine receptor type 3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A C-C chemokine receptor type 3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10002 RGS6 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene RGS6 in human. http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4460 GPM6A (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene GPM6A in human. http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/PR_Q8IWU6 extracellular sulfatase Sulf-1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein An extracellular sulfatase Sulf-1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/PR_Q8IY50 putative thiamine transporter SLC35F3 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A putative thiamine transporter SLC35F3 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20391 SULF1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SULF1 in human. http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23616 SLC35F3 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene SLC35F3 in human. http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/PR_Q92786 prospero homeobox protein 1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A prospero homeobox protein 1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9459 PROX1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene PROX1 in human. http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/PR_Q9Y2I2 netrin-G1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A netrin-G1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23319 NTNG1 (human) http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene A protein coding gene NTNG1 in human. http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/GO_0140096 catalytic activity, acting on a protein http://purl.obolibrary.org/obo/GO_0003824 catalytic activity Catalytic activity that acts to modify a protein. http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm (disease) that involves the urethra. http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease A disease or disorder that involves the lymphoid system. http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of organic acid metabolic process. http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease http://purl.obolibrary.org/obo/MONDO_0000226 mineral metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/GO_0140323 solute:anion antiporter activity http://purl.obolibrary.org/obo/GO_0022853 active ion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000381 human subject http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/GO_0140375 immune receptor activity http://purl.obolibrary.org/obo/GO_0038023 signaling receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/MONDO_0100120 vector-borne disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OBI_2000009 bodily fluid specimen http://purl.obolibrary.org/obo/OBI_0001479 specimen from organism A specimen that is derived from some bodily fluid http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/HP_0033217 Perihilar glomerular hyalinosis http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0033218 Glomerular hyalinosis at the tubular pole http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/HP_0033219 Glomerular hyalinosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033216 Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/HP_0033224 Glomerular parietal epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/HP_0033225 Glomerular parietal epithelial cell hypertrophy http://purl.obolibrary.org/obo/HP_0033223 Abnormal glomerular parietal epithelial cell morphology An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/HP_0033226 Bowman capsular hyaline drops http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/HP_0033227 Glomerular synechial adhesion http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033233 Paramesangial deposits http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033234 Mesangial hyaline deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/HP_0033237 Visceral epithelial cell detachment http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/HP_0033238 Podocyte microvillous transformation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Cytoplasmic projections into the urinary space from the luminal side of the podocyte. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033239 Visceral epithelial cell capping http://purl.obolibrary.org/obo/HP_0020133 Podocyte hypertrophy Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033261 Renal artery aneurysm http://purl.obolibrary.org/obo/HP_0008776 Abnormal renal artery morphology Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin figures http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Lamellated intracytoplasmic lipid inclusions within podocytes. http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/HP_0033266 Glomerular pseudocrescent http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/HP_0033268 Deflation of the glomerular tuft http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/HP_0033269 Glomerular capillary collapse http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/HP_0033270 Glomerular capillary congestion http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Global distention of glomerular capillaries with intraluminal intact red blood cells. http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary microaneurysm http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/HP_0033273 Loss of glomerular endothelial cell fenestration http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/HP_0033274 Glomerular endotheliosis http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/HP_0033275 Glomerular endothelial tubuloreticular inclusion http://purl.obolibrary.org/obo/HP_0033272 Abnormal glomerular endothelial cell morphology Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/HP_0033277 Glomerular fibrinoid necrosis http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://purl.obolibrary.org/obo/HP_0033283 Segmentally thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/HP_0033284 Diffusely thickened glomerular basement membrane http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/HP_0033285 Thickened glomerular basement membranes with no electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0033287 Glomerular basement membrane lucencies http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/HP_0033289 Glomerular basement membrane wrinkling http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Irregular folding of the glomerular basement membrane with an intact lamina densa. http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0033290 Glomerular subendothelial widening http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/HP_0033291 Glomerular karyhorrhectic debris http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033292 Glomerular fibrin thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/HP_0033293 Glomerular hyaline pseudothrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary amorphous, eosinophilic material consisting of immune deposits. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033294 Glomerular lipoprotein thrombus http://purl.obolibrary.org/obo/HP_0033267 Abnormal glomerular capillary lumen morphology Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/HP_0033295 Mesangial Immune complex deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033296 Binucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/HP_0033297 Multinucleated visceral epithelial cells http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://purl.obolibrary.org/obo/HP_0033313 Urinary space collagenization http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/HP_0033314 Visceral epithelial cell hyperplasia http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://purl.obolibrary.org/obo/HP_0033315 Visceral epithelial hyaline droplets http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/HP_0033317 Cellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/HP_0033318 Fibrocellular crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/HP_0033319 Fibrous crescent http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent formation A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/HP_0033320 Mesangial cell loss http://purl.obolibrary.org/obo/HP_0033231 Abnormal glomerular mesangial cellularity Loss of mesangial cells segmentally or globally. http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/HP_0033321 Glomerular obsolescence http://purl.obolibrary.org/obo/HP_0004737 Global glomerulosclerosis Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/HP_0033322 Glomerular capillary wall duplication without cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/HP_0033323 Glomerular capillary wall duplication with cellular interposition http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/OPMI_0000471 number of hospital admissions http://purl.obolibrary.org/obo/OPMI_0000240 hospital question 指患者在本医疗机构住院诊治的次数 http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/OPMI_0000475 birth datetime http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time The date and time of birth of a person. http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/OPMI_0000479 care site http://purl.obolibrary.org/obo/BFO_0000029 site A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://purl.obolibrary.org/obo/OPMI_0000489 visit duration http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region A temporal region that covers the time period from the visit start time to the visit end time. http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/OPMI_0000493 emergency room and inpatient visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/OPMI_0000494 non-hospital institution visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/OPMI_0000496 telehealth visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/OPMI_0000497 pharmacy visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A visit to the pharmacy for dispensing of drug, at a care site, within one day http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://purl.obolibrary.org/obo/OPMI_0000499 case management visit http://purl.obolibrary.org/obo/OPMI_0000482 medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000500 home http://purl.obolibrary.org/obo/BFO_0000029 site A site that is used as a permanent or semi-permanent residence for one or many humans. http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000504 DEA identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/OPMI_0000534 medical condition stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/OPMI_0000537 principal diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/OPMI_0000541 preoperative diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/OPMI_0000549 preliminary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000542 admission diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000550 preliminary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status The status of have the primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000552 contributory cause of death status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. http://purl.obolibrary.org/obo/OPMI_0000553 immediate cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status An immediate cause of death is a final disease, injury, or complication directly causing the death http://purl.obolibrary.org/obo/OPMI_0000560 resolved condition status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000561 underlying cause of death status http://purl.obolibrary.org/obo/OPMI_0000543 cause of death status The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue A muscle tissue that is associated with soft internal organs (viscera). http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/CHEBI_228364 NMR chemical shift reference compound http://purl.obolibrary.org/obo/CHEBI_51086 chemical role Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_6000368 Sonographic renal salt and pepper pattern http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/HP_6000428 Glomerular fibronectin deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Accumulation of fibronectin in the glomerulus. http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_6000429 Renal tubular karyomegaly http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/HP_0012782 Perilobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0012783 Intralobar nephrogenic rest http://purl.obolibrary.org/obo/HP_0100880 Nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/HP_0012784 Perinephritis http://purl.obolibrary.org/obo/HP_0000123 Nephritis Inflammation of the connective and adipose tissues surrounding the kidney. http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/HP_0012787 Recurrent pyelonephritis http://purl.obolibrary.org/obo/HP_0012330 Pyelonephritis Repeated episodes of pyelonephritis. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/HP_0025005 Thickening of glomerular capillary wall http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/HP_0025006 Abnormal glomerular capillary morphology http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology A structural anomaly of the capillary blood vessels in the renal glomerulus. http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/HP_0025033 Abnormality of digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system A structural anomaly of the digestive system. http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/HP_0025142 Constitutional symptom http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. http://purl.obolibrary.org/obo/HP_0025153 Transient http://purl.obolibrary.org/obo/HP_0011008 Temporal pattern Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. http://purl.obolibrary.org/obo/HP_0030034 Glomerular basement membrane lamellation http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Presence of abnormal additional layers of the basement membrane of the glomerulus. http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/HP_0030035 Struvite nephrolithiasis http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/HP_0030036 Isothenuria http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology Inability of the kidneys to produce either concentrated or dilute urine. http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/HP_0030162 Glomerulomegaly http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology Abnormally large size of glomeruli. http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/HP_0030171 Perirenal hematoma http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology A collection of clotted blood surrounding the kidney. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/HP_0030762 Mesangiolysis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/HP_0030828 Wheezing http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound A high-pitched whistling sound associated with labored breathing. http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/HP_0030830 Rales http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/HP_0030831 Rhonchi http://purl.obolibrary.org/obo/HP_0030829 Abnormal breath sound Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://purl.obolibrary.org/obo/HP_0030848 Elevated jugular venous pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology Increased jugular venous pressure. http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure http://purl.obolibrary.org/obo/HP_0030163 Abnormal vascular physiology An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure http://purl.obolibrary.org/obo/HP_0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/HP_0040126 Abnormal vitamin B12 level http://purl.obolibrary.org/obo/HP_0004341 Abnormality of vitamin B12 metabolism A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/MPATH_0 pathological entity http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Pathological structure or process http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/MPATH_175 healing and repair process http://purl.obolibrary.org/obo/MPATH_596 pathological process The process, normal or abnormal, of damage repair or wound closure. http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/MPATH_176 connective tissue replacement http://purl.obolibrary.org/obo/MPATH_175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/MPATH_188 immunopathological process http://purl.obolibrary.org/obo/MPATH_596 pathological process Inappropriate or aberrant activation or suppression of the immune or inflammatory response. http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease http://purl.obolibrary.org/obo/MPATH_188 immunopathological process Tissue response to inappropriate immune/inflammatory process. http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/MPATH_212 inflammation http://purl.obolibrary.org/obo/MPATH_194 immune mediated disease A tissue reaction to an internal or external injury. http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/MPATH_25 tissue specific degenerative process http://purl.obolibrary.org/obo/MPATH_14 process of degenerative change Degenerative process characteristic of a particular tissue. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation http://purl.obolibrary.org/obo/MPATH_1 cell and tissue damage Accumulation of substances within, on the surface of or between cells. http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Developmental and structural abnormalities occurring during embryonic development or during adult life. http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/MPATH_555 mineralisation http://purl.obolibrary.org/obo/MPATH_33 intracellular and extracellular accumulation Deposition of any homogeneous inorganic material. http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/MPATH_56 developmental or adult structural defect http://purl.obolibrary.org/obo/MPATH_55 developmental and structural abnormality Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/MPATH_596 pathological process http://purl.obolibrary.org/obo/MPATH_0 pathological entity The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/MPATH_597 cell and tissue damage process http://purl.obolibrary.org/obo/MPATH_596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities http://purl.obolibrary.org/obo/MPATH_596 pathological process developmental process abnormalities http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity http://purl.obolibrary.org/obo/MPATH_0 pathological entity Anatomically located instance of pathological response or entity. http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MPATH_607 healing and repair structure http://purl.obolibrary.org/obo/MPATH_603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MPATH_64 developmental dysplasia http://purl.obolibrary.org/obo/MPATH_599 developmental process abnormalities Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/MF_0000008 cognitive process http://purl.obolibrary.org/obo/MF_0000020 mental process A mental process that creates, modifies or has as participant some cognitive representation. http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/MF_0000017 consciousness http://purl.obolibrary.org/obo/BFO_0000144 process profile Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/MF_0000020 mental process http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/MF_0000030 representation http://purl.obolibrary.org/obo/BFO_0000020 specifically dependent continuant A dependent continuant which is about a portion of reality. http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/MF_0000031 cognitive representation http://purl.obolibrary.org/obo/MF_0000030 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/MF_0000032 bodily disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/MF_0000033 mental disposition http://purl.obolibrary.org/obo/MF_0000032 bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) http://purl.obolibrary.org/obo/MONDO_0019313 hereditary lymphedema Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/PATO_0000001 quality An attribute of a disease. http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/HP_0033064 Renal interstitial globotriaosylceramide inclusions http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/HP_0033069 Renal interstitial IgG4+ plasma cell infiltration http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology An increased number of IgG4+ plasma cells in the interstitial space of the kidney. http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/PR_000050098 artificial protein http://purl.obolibrary.org/obo/PR_000000001 protein An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous echogenicity of the kidney on ultrasound examination. http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/OPMI_0000568 drug exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/OPMI_0000571 drug exposure verbatim end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The end date of a drug exposure as it appears in the source data http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/OPMI_0000569 drug exposure stop reason specification http://purl.obolibrary.org/obo/IAO_0000007 action specification The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/OPMI_0000573 quantity of drug exposure http://purl.obolibrary.org/obo/IAO_0000109 measurement datum The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000562 device exposure start date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure starts. http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://purl.obolibrary.org/obo/OPMI_0000563 device exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure starts. http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/OPMI_0000557 device exposure end date http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date on which a device exposure ends. http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/OPMI_0000558 device exposure end datetime http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region The date and time on which a device exposure ends. http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/ENVO_00000062 populated place http://purl.obolibrary.org/obo/ENVO_01000408 environmental zone Place or area with clustered or scattered buildings and a permanent human population. http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/ENVO_00000070 construction http://purl.obolibrary.org/obo/ENVO_00000002 anthropogenic geographic feature A feature that has been constructed by deliberate human effort. http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/ENVO_00000073 building http://purl.obolibrary.org/obo/ENVO_00000070 construction A permanent walled and roofed construction. http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/ENVO_00000856 city http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement Incorporated populated place. http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/ENVO_00003074 manufactured product http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/ENVO_01000313 anthropogenic environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An anthropogenic environment is an environmental system which is the product of human activity. http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/ENVO_01000420 building part http://purl.obolibrary.org/obo/ENVO_00000070 construction A building part is a construction which is part of a building. http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/ENVO_01000637 outer space http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://purl.obolibrary.org/obo/ENVO_01000658 dense settlement http://purl.obolibrary.org/obo/ENVO_00000062 populated place A settlement with a high density of buildings and inhabitants. http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/ENVO_01000744 human dwelling http://purl.obolibrary.org/obo/ENVO_00000070 construction A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/ENVO_01000773 village http://purl.obolibrary.org/obo/ENVO_00000062 populated place A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/ENVO_01000804 astronomical object http://purl.obolibrary.org/obo/ENVO_00002297 environmental feature An object which is composed of one or more gravitationally bound structures that are associated with a position in space. http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/ENVO_01000817 biosphere http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/ENVO_02500026 anthropogenic modulatory intervention process http://purl.obolibrary.org/obo/OBI_0000011 planned process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process An environmental process which is driven by the action of humans. http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/FOODON_00001002 food product http://purl.obolibrary.org/obo/FOODON_00002403 food material Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field http://purl.obolibrary.org/obo/UBERON_0007688 anlage An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/UBERON_0036150 skin appendage follicle http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure An organ subunit in the skin that gives rise to cutaneous appendage. http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item The representation of a conclusion of a diagnostic process. http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration The point at which one or more contiguous nucleotides were excised. http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001483 SNV http://purl.obolibrary.org/obo/SO_1000002 substitution SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_1000002 substitution http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration A sequence alteration where the length of the change in the variant is the same as that of the reference. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/SO_1000008 point_mutation http://purl.obolibrary.org/obo/SO_0001483 SNV A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/UBERON_0034947 gas in respiratory system http://purl.obolibrary.org/obo/UBERON_0034873 bodily gas Any portion of gas located in a part of the respiratory system. http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/GO_0120031 plasma membrane bounded cell projection assembly http://purl.obolibrary.org/obo/GO_0030031 cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C19308 Average Household Income http://purl.obolibrary.org/obo/NCIT_C70811 Household Income A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/NCIT_C19309 Number of Children in Household http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors a demographics parameter useful for identifying socio-economic groups. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/NCIT_C19666 Age at Menarche http://purl.obolibrary.org/obo/NCIT_C25150 Age Age of first menstruation. A risk factor for breast cancer http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C19667 Age at First Live Birth http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a woman gave birth to her first live child. http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C70811 Household Income http://purl.obolibrary.org/obo/NCIT_C41150 Income A demographic parameter indicating the amount of earnings made by a family. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C34724 Low Birth Weight http://purl.obolibrary.org/obo/NCIT_C76325 Birth Weight (NCIT) A birth weight that is less than 2500 grams. http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/NCIT_C49679 Mean Arterial Pressure http://purl.obolibrary.org/obo/NCIT_C54706 Blood Pressure The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C67109 Multiracial http://purl.obolibrary.org/obo/NCIT_C17049 Race Having ancestors of several or various races. http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C67111 Multiple Hispanic http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C67112 Puerto Rican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino A person of Puerto Rican culture or origin, regardless of race. http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C67113 Mexican http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Mexico. http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/NCIT_C67114 Mexican American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes an american citizen of Mexican descent. http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C67115 Cuban or Cuban American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from or of Cuba or an American citizen of Cuban descent. http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C67117 Dominican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C67118 Central American http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C67120 Spanish http://purl.obolibrary.org/obo/NCIT_C17459 Hispanic or Latino Denotes a person from Spain or of Spanish descent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/NCIT_C67145 Current Every Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C67146 Current Some Day Smoker http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C67147 Current Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C67148 Former Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/NCIT_C67150 Smoker, Current Status Unknown http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates a person who is known to have smoked but whose current smoking status is unknown. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C67151 Unknown If Ever Smoked http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status Indicates that a person's smoking status is unknown. http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://purl.obolibrary.org/obo/NCIT_C67271 Bahamian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C68751 Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who inhales or has inhaled combustible products of organic material during their lifetime. http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C69217 Age Started http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person at the start of a specific event. http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C69260 Subject Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of a person who is the subject in a study. http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/NCIT_C77809 South or Central American Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C77810 Caribbean Indian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in one of the indigenous people of the Caribbean. http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/NCIT_C77811 Mediterranean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/NCIT_C77812 North American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C77813 North Coast of Africa http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C77814 Northern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C77815 Black South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C77816 White Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://purl.obolibrary.org/obo/NCIT_C77817 Western European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C77818 White South or Central American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C77819 Eastern European http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C77820 Middle Eastern http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/OGMS_0000083 physical examination finding The result of a body mass index measurement. http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C138932 Body Mass Index Less Than 19 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement less than 19. http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/NCIT_C138933 Body Mass Index 19 to Less Than 21 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 19 but below 21. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C138934 Body Mass Index 21 to Less Than 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 21 but below 23. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C138935 Body Mass Index Greater Than or Equal to 23 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding Indicates a body mass index measurement greater than or equal to 23. http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/NCIT_C138936 Age Greater than 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was greater than 85 years. http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/NCIT_C138937 Age Between 80 and 85 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or was between 80 and 85 years. http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://purl.obolibrary.org/obo/NCIT_C138938 Age Less than 80 Years http://purl.obolibrary.org/obo/NCIT_C25150 Age An indication that an individual's age is or less than 80 years. http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C139031 Estimated Systolic Blood Pressure http://purl.obolibrary.org/obo/NCIT_C25298 Systolic Blood Pressure A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C139175 Age at Full-Time Use http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the full-time use of an entity occurred. http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/ENVO_00010483 environmental material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm http://purl.obolibrary.org/obo/MONDO_0005495 adrenal gland disease A neoplasm (disease) that involves the adrenal gland. http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A grouping of diseases based on molecular activity, cellular process or subcellular component. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/CHEBI_139592 tertiary alpha-hydroxy ketone http://purl.obolibrary.org/obo/CHEBI_139588 alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OBI_0002444 measurand role http://purl.obolibrary.org/obo/BFO_0000023 role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OBI_0002453 health status inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0002454 clinically relevant lifestyle inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0002455 clinically relevant exposure inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0002456 gravidity inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_01001164 geodiversity http://purl.obolibrary.org/obo/PATO_0001241 physical object quality A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/ENVO_01001170 active ecosystem management process http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disorder of the nervous system related to a vascular etiology. http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to organic molecular entity. http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/ECTO_0000163 organic cyclic compound exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to organic cyclic compound. http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure http://purl.obolibrary.org/obo/ECTO_0000135 organic molecular entity exposure An exposure to lipid. http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to chemical entity. http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/ECTO_0000258 steroid hormone exposure http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure An exposure to steroid hormone. http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure http://purl.obolibrary.org/obo/ECTO_0000231 chemical entity exposure An exposure to oxygen molecular entity. http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/ECTO_0000486 application exposure http://purl.obolibrary.org/obo/RO_0002310 exposure event or process An exposure to application. http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/ECTO_0002002 steroid exposure http://purl.obolibrary.org/obo/ECTO_0000200 lipid exposure An exposure to steroid. http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis http://purl.obolibrary.org/obo/MONDO_0002118 urinary system disease Stone(s) within the urinary tract. http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder http://purl.obolibrary.org/obo/MONDO_0005381 bone disease A non-neoplastic or neoplastic disorder that affects structures of the skull. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm A Wilms tumor of the kidney which occurs in children. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/MONDO_0024711 malignant mixed epithelial stromal tumor of the kidney http://purl.obolibrary.org/obo/MONDO_0005853 malignant mixed neoplasm A mixed epithelial stromal tumor of the kidney with malignant stromal features. http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor http://purl.obolibrary.org/obo/MONDO_0019496 neuroendocrine neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/MONDO_0027676 congenital anomalies of kidney and urinary tract 2 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/MONDO_0030604 cystic partially differentiated nephroblastoma http://purl.obolibrary.org/obo/MONDO_0024676 childhood kidney Wilms tumor A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) An autoimmune form of glomerulonephritis (disease). http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0004994 cardiomyopathy An autoimmune form of cardiomyopathy. http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis http://purl.obolibrary.org/obo/MONDO_0006794 hypersensitivity vasculitis An autoimmune form of vasculitis. http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0033004 polycystic kidney disease 4 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/MONDO_0033281 polycystic kidney disease 5 http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0006517 childhood malignant neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma http://purl.obolibrary.org/obo/MONDO_0004993 carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A invasive carcinoma that involves the urothelium. http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/MONDO_0043317 amyopathic dermatomyositis http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/MONDO_0043459 radiation-induced disorder http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/MONDO_0044113 bullous systemic lupus erythematosus http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/MONDO_0044137 vitreous body disorder http://purl.obolibrary.org/obo/MONDO_0005328 eye disease Any disease affecting the vitreous body of the eye. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/MONDO_0044308 bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/MONDO_0044328 short-rib thoracic dysplasia 20 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type A disease or disorder that involves the erythrocyte. http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/MONDO_0044781 nephrotic syndrome of childhood - steroid sensitive http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the abdominal segment of trunk. http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region A disease or disorder that involves the limb. http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/MONDO_0044987 face disease http://purl.obolibrary.org/obo/MONDO_0005042 head disease A disease or disorder that involves the face. http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease http://purl.obolibrary.org/obo/MONDO_0005267 heart disease A disease or disorder that involves the cardiac ventricle. http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder A disease that has its basis in the disruption of cholesterol metabolic process. http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A disease that has its basis in the disruption of glycoprotein metabolic process. http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of steroid metabolic process. http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate transport. http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol biosynthetic process. http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease http://purl.obolibrary.org/obo/MONDO_0004691 autosomal dominant polycystic kidney disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/MONDO_0056796 obstructive nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Renal damage and impaired renal function secondary to urinary tract obstruction. http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum A benign or malignant neoplasm that affects the retroperitoneum. http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm http://purl.obolibrary.org/obo/MONDO_0021227 adrenal gland neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease http://purl.obolibrary.org/obo/MONDO_0004335 digestive system disease A disease or disorder that involves the upper digestive tract. http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm http://purl.obolibrary.org/obo/MONDO_0006424 soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/OPMI_0000168 2nd email address http://purl.obolibrary.org/obo/IAO_0000429 email address An email address that is used secondary after the de fault first email address. http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/OPMI_0000169 age question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about age http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/OPMI_0000170 Whether age less than 18 years old http://purl.obolibrary.org/obo/OPMI_0000169 age question A textual question that asks whether a person's age is less than 18 years old http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/OPMI_0000172 KPMP eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient http://purl.obolibrary.org/obo/OPMI_0000180 transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/OPMI_0000182 Whether kidney transplant recipient http://purl.obolibrary.org/obo/OPMI_0000181 Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/OPMI_0000187 KPMP biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/OPMI_0000188 KPMP biosample collection form http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/OPMI_0000189 KPMP adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/OPMI_0000190 KPMP biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/OPMI_0000191 KPMP clinic reception form http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/OPMI_0000192 KPMP contact information form http://purl.obolibrary.org/obo/OPMI_0000048 contact information form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/OPMI_0000195 eligibility question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that is about eligibility of a person to participate in a project. http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage A lymphocyte of B lineage that is CD19-positive. http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ECTO_9000026 alcohol exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to alcohol. http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/ECTO_9000044 ketone exposure http://purl.obolibrary.org/obo/ECTO_0000371 oxygen molecular entity exposure An exposure to ketone. http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/OPMI_0000419 human cohort http://purl.obolibrary.org/obo/OMRSE_00000023 collection of humans A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000425 self-replication http://purl.obolibrary.org/obo/BFO_0000015 process A process of a dynamic system that produces an identiical or similar copy of itself. http://purl.obolibrary.org/obo/OPMI_0000427 human subject age data http://purl.obolibrary.org/obo/IAO_0000109 measurement datum A measurement datum that is about the age of human subject http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000436 older adult human subject http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/OPMI_0000437 adult human subject http://purl.obolibrary.org/obo/OPMI_0000381 human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_0017500 neutrophillic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_0017502 acidophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_0017503 basophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CL_0017504 polychromatophilic cytoplasm http://purl.obolibrary.org/obo/GO_0005737 cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/GO_0140962 multicellular organismal-level chemical homeostasis http://purl.obolibrary.org/obo/GO_0048878 chemical homeostasis A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. http://purl.obolibrary.org/obo/IAO_0000608 author information textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/IAO_0000614 case report textual entity http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute http://purl.obolibrary.org/obo/IAO_0000030 information content entity The distinguishing qualities or prominent aspects of an individual person. http://purl.obolibrary.org/obo/NCIT_C122188 Estimated Gestational Age http://purl.obolibrary.org/obo/NCIT_C25150 Age An approximate calculation of the gestational age of the fetus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C122393 Number of Years of Education http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors The number of education years that a subject has competed. http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124438 Age at First Episode http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first episode occurred. http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/NCIT_C124439 Age at First Hospitalization http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first hospitalization event occurred. http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C124440 Age at First Treatment http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which the first treatment event occurred. http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124477 Gravid Uterus Adjusted Maternal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C124479 Fetal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight An estimate or direct measurement of the heaviness of a fetus. http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C124627 Average Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live fetuses. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/NCIT_C124628 Average Female Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live female fetuses. http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C124629 Average Male Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the average weight of all live male fetuses. http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C124630 Total Live Fetal Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight A measurement of the total weight of all live fetuses. http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/NCIT_C16310 Asian American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/NCIT_C65108 Never Smoker http://purl.obolibrary.org/obo/NCIT_C19796 Smoking Status A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism A hypercalcemia disease that occurs between 28 days to one year of life.. http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/MONDO_0021093 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/GO_0062023 collagen-containing extracellular matrix http://purl.obolibrary.org/obo/GO_0031012 extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A neoplasm involving a urothelium. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/HP_0025647 Steroid-sensitive nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000384 facility contact http://purl.obolibrary.org/obo/OPMI_0000383 contact person A contact person for each facility participating in a study. http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/OPMI_0000388 facility contact backup http://purl.obolibrary.org/obo/OPMI_0000383 contact person Person to contact if Facility Contact is not available (that is, a second contact person). http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/OPMI_0000391 contact person role http://purl.obolibrary.org/obo/BFO_0000023 role a role taken by a person who serves as a contact for some process. http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/OPMI_0000394 overall study official http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/OPMI_0000397 contact person information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information content entity about a contact person http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000050025 angiotensinogenase http://purl.obolibrary.org/obo/CHEBI_36080 protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/MONDO_0100241 inherited thrombocytopenia http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease An instance of thrombocytopenia that is inherited. http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/HP_0033835 Abnormal renal vascular morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology Anomalous structure of a blood vessel in the kidney. http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/HP_0034356 Impaired renal tubular reabsorption of low molecular weight protein http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/HP_0034357 Impaired renal tubular reabsorption of glucose http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/HP_0034358 Impaired renal tubular reabsorption of sodium http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034359 Impaired renal tubular reabsorption of phosphate http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0002371 somatic cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CL_0011012 neural crest cell http://purl.obolibrary.org/obo/CL_0002321 embryonic cell (metazoa) A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/CL_2000008 microvascular endothelial cell http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/CL_2000032 peripheral nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron A neuron that is part of a peripheral nervous system. http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/CP_0000043 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0035553 left cardiac chamber http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure Any chamber of the left side of the heart http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/UBERON_0035554 right cardiac chamber http://purl.obolibrary.org/obo/UBERON_0004151 cardiac chamber Any chamber of the right side of the heart. http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/UBERON_0035804 future mouth http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube The primordial mouth region of the developing head. http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/FOODON_03420116 part of organism http://purl.obolibrary.org/obo/BFO_0000040 material entity Anatomical part of the plant or animal from which a food product or its major ingredient is derived. http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0025418 Renal cortical necrosis http://purl.obolibrary.org/obo/HP_0032618 Renal necrosis Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0031033 Impaired urinary acidification http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/GO_0140053 mitochondrial gene expression http://purl.obolibrary.org/obo/GO_0010467 gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland Any gland that is part os the respiratory system. http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C103173 Age at Time of Vaccination http://purl.obolibrary.org/obo/NCIT_C25150 Age The age of the subject at the time of the vaccination. http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C103282 Religious Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A group of people characterized by the practice of a common religion. http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/NCIT_C103283 Sephardic Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/NCIT_C104495 Other Race http://purl.obolibrary.org/obo/NCIT_C17049 Race Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group http://purl.obolibrary.org/obo/NCIT_C17005 Population Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C17049 Race http://purl.obolibrary.org/obo/NCIT_C17005 Population Group An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/NCIT_C114088 Conception Age http://purl.obolibrary.org/obo/NCIT_C25150 Age The time elapsed between the day of conception and the day of delivery. http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114089 Corrected Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C114090 Postmenstrual Age http://purl.obolibrary.org/obo/NCIT_C25150 Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/NCIT_C126362 Age of Majority http://purl.obolibrary.org/obo/NCIT_C25150 Age The age at which a minor assumes legal control over their person, actions, and decisions. http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/NCIT_C126528 Central African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C126529 North African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C126530 South African http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes a person whose ancestry is in the country of South Africa. http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C126531 Latin American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/NCIT_C126532 South American http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in any of the countries of South America. http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/NCIT_C126533 Southeast Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/NCIT_C126534 Central Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCIT_C126535 Australian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country or continent of Australia. http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/NCIT_C126536 New Zealander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of New Zealand. http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C126537 Icelander http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the country of Iceland. http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/NCIT_C126538 Scandinavian http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C42331 African http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C16358 Body Mass Index http://purl.obolibrary.org/obo/NCIT_C19332 Personal Attribute A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/NCIT_C17009 Poverty http://purl.obolibrary.org/obo/NCIT_C17468 Socioeconomic Factors A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/NCIT_C17950 Ashkenazi Jew http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native http://purl.obolibrary.org/obo/NCIT_C17049 Race A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A disease that involves the dermis. http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0021163 kidney neoplasm http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/MONDO_0024571 AIDS-related disorder http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 Onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/HP_0020129 Abnormal urine protein level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level Any deviation of the concentration of one or more proteins in the urine. http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0020131 Abnormal tubular basement membrane morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure of the basement membrane of the renal tubulus. http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process http://purl.obolibrary.org/obo/RO_0002310 exposure event or process A exposure event involving the interaction of an exposure receptor to environmental system process. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/GO_0140546 defense response to symbiont http://purl.obolibrary.org/obo/GO_0098542 defense response to other organism Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/BFO_0000040 material entity A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker A biomarker that is indicative of a disease http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/CL_0017508 cartwheel heterochromatin http://purl.obolibrary.org/obo/GO_0000792 heterochromatin Heterochromatin that is arranged in a carthwheel pattern. http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/CHEBI_137431 antihypotensive agent http://purl.obolibrary.org/obo/BFO_0000023 role A cardiovascular drug that tends to raise reduced blood pressure. http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OBI_0002423 age of majority inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/OBI_0002424 chemotherapy treatment exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/OBI_0002425 radiation treatment exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/OBI_0002426 chemotherapy treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/OBI_0002427 radiation treatment within the recent past exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/OBI_0002428 BMI range inclusion criterion http://purl.obolibrary.org/obo/OBI_0500027 inclusion criterion An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/OBI_0002429 blood transfusion exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OBI_0002430 history of metastatic cancer exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/OBI_0002431 intravenous drug use exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/OBI_0002432 history of sex with someone with a history of blood borne infection exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/OBI_0002433 history of sex with someone with a history of intravenous drugs exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/OBI_0002434 HIV exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/OBI_0002435 exposure to blood borne infectious disease exclusion criterion http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/MONDO_0021641 Bunyaviridae infectious disease http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the bunyaviridae. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0005550 infectious disease A Disease due to or propagated by sexual contact. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm A neoplasm (disease) that involves the parathyroid gland. http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/ECTO_0000001 exposure to radiation http://purl.obolibrary.org/obo/ECTO_8000000 exposure to environmental system process A exposure event involving the interaction of an exposure receptor to radiation. http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0032169 Severe infection http://purl.obolibrary.org/obo/HP_0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000120 ZIP code http://purl.obolibrary.org/obo/OPMI_0000119 postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status http://purl.obolibrary.org/obo/OPMI_0000326 status The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000122 employment status http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://purl.obolibrary.org/obo/OPMI_0000123 full time employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/OPMI_0000125 hourly employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status an employment status where the work is arranged and paid on a hourly basis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://purl.obolibrary.org/obo/OPMI_0000126 self-employment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status The state of working for oneself rather than an employer. http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000132 no formal school education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person does not have formal school education. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://purl.obolibrary.org/obo/OPMI_0000133 high school education level http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent An education level that indicates that the highest level of education achievement for a person is a high school completion. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000138 kindergarten completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/OPMI_0000139 preschool completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is preschool. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://purl.obolibrary.org/obo/OPMI_0000141 1st Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000142 2nd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/OPMI_0000143 3rd Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/OPMI_0000144 4th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/OPMI_0000145 5th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/OPMI_0000146 6th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000147 7th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. http://purl.obolibrary.org/obo/OPMI_0000148 8th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/OPMI_0000149 9th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000150 10th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OPMI_0000151 11th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://purl.obolibrary.org/obo/OPMI_0000152 12th Grade education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/OPMI_0000153 associate academic degree education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://purl.obolibrary.org/obo/OPMI_0000154 vocational program completion education level http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/OPMI_0000156 Medicaid http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance A joint federal and state program that helps with medical costs for some people with limited income and resources. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000157 Medicare http://purl.obolibrary.org/obo/OPMI_0000010 USA government health plan insurance Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000161 birth weight http://purl.obolibrary.org/obo/OPMI_0000160 body weight A body weight that is obtained immediately after birth http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormal level of an analyte measured in the blood. http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/HP_0032245 Abnormal metabolism http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/MONDO_0020726 medullary cystic kidney disease 1 http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/HP_0032946 Renal cortical interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/HP_0032947 Renal medullary interstitial inflammation http://purl.obolibrary.org/obo/HP_0032945 Renal interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/HP_0032948 Renal interstitial fibrosis http://purl.obolibrary.org/obo/HP_0032581 Abnormal renal insterstitial morphology The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/HP_0032949 Renal interstitial calcium phosphate deposits http://purl.obolibrary.org/obo/HP_0032644 Renal interstitial deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Abnormal structure or form of the lumen (opening) of kidney tubules. http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/HP_0032952 Usual-type tubular atrophy http://purl.obolibrary.org/obo/HP_0000092 Renal tubular atrophy A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://purl.obolibrary.org/obo/HP_0032953 Renal tubular cytomegalovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/HP_0032954 Renal tubular adenovirus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/HP_0032955 Renal tubular polyoma virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/HP_0032956 Renal tubular herpes simplex virus inclusions http://purl.obolibrary.org/obo/HP_0032951 Renal tubular viral cytopathic changes Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/HP_0032957 Dysmorphic hematuria http://purl.obolibrary.org/obo/HP_0000790 Hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/HP_0032959 Intratubular calcium oxalate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/HP_0032960 Intratubular calcium phosphate casts http://purl.obolibrary.org/obo/HP_0032623 Renal intratubular casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/HP_0032962 Tubular microcystic change http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular lumen morphology Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/HP_0032963 Complex renal cyst http://purl.obolibrary.org/obo/HP_0000107 Renal cyst A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/CL_4030017 epithelial cell of late distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the late distal convoluted tubule. http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/CL_4030016 epithelial cell of early distal convoluted tubule http://purl.obolibrary.org/obo/CL_1000849 kidney distal convoluted tubule epithelial cell An epithelial cell located in the early distal convoluted tubule. http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/HP_0034402 Rhabdoid tumor of the kidney http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000140 neurosurgereon role http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role A surgeon role realized by its bearer using performing neurosurgery. http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology A chronic deviation from normal pressure in the systemic arterial system. http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/IAO_0021007 document act input document http://purl.obolibrary.org/obo/IAO_0000310 document A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/ENVO_01000996 construction process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01001023 radiation http://purl.obolibrary.org/obo/ENVO_01001852 energy transfer process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/ENVO_01001026 electromagnetic radiation http://purl.obolibrary.org/obo/ENVO_01001023 radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0009436 congenital hypothalamic hamartoma syndrome http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-hall syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0015218 syndromic developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation A anorectal malformation that is part of a larger syndrome. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease The inherited predisposition toward getting a tumor. http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease http://purl.obolibrary.org/obo/MONDO_0005154 liver disease Genetic biliary tract disease. http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension An instance of hypertension that is caused by a modification of the individual's genome. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder Genetic dementia. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/MONDO_0015945 polymalformative genetic syndrome with increased risk of developing cancer http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0017133 genetic systemic or rheumatologic disease http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder An instance of dysostosis that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://purl.obolibrary.org/obo/MONDO_0018729 genetic vascular tumor http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly An instance of rare vascular tumor that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019060 bone neoplasm http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019066 syndrome with brachydactyly http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/cl#has_completed has_completed http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease http://purl.obolibrary.org/obo/MONDO_0005093 skin disease A skin disease that involves the epidermis. http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly A nail anomaly that is part of a larger syndrome. http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease A disease that involves the superficial vasculature. http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract A aniridia that is part of a larger syndrome. http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract (disease) A cataract (disease) that is part of a larger syndrome. http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A neoplasm composed of at least two distinct cellular populations. http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/MONDO_0021045 fibroepithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0013482 Meckel syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/MONDO_0013573 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/MONDO_0013609 Meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/MONDO_0013619 nephrotic syndrome, type 6 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/MONDO_0013630 Meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus (disease) An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E http://purl.obolibrary.org/obo/MONDO_0019162 pseudohypoaldosteronism type 2 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/MONDO_0013817 preeclampsia/eclampsia 5 http://purl.obolibrary.org/obo/MONDO_0005081 preeclampsia Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0005376 membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014049 urofacial syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/MONDO_0014099 nephrotic syndrome, type 8 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/MONDO_0014164 Meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 http://purl.obolibrary.org/obo/MONDO_0100243 inherited paroxysmal nocturnal hemoglobinuria Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0014236 Ehlers-Danlos syndrome, musculocontractural type 2 http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/MONDO_0014257 nephrotic syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/MONDO_0014275 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0014319 renal hypodysplasia/aplasia 2 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014373 nephrotic syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0014579 Senior-Loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0014712 Senior-Loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/MONDO_0014752 nephrotic syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014779 Wilms tumor 6 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0014817 nephrotic syndrome, type 12 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/MONDO_0014818 nephrotic syndrome, type 13 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile 2 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor http://purl.obolibrary.org/obo/MONDO_0003240 thyroid gland disease A benign or malignant neoplasm affecting the thyroid gland. http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome Fevers of unknown etiology recurring over months or years. http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra (disease) http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome http://purl.obolibrary.org/obo/MONDO_0005833 lymphatic system disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis http://purl.obolibrary.org/obo/MONDO_0009369 non-immune hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female A uterovaginal malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0005244 peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation A non-syndromic urogenital tract malformation that involves the female organism. http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/MONDO_0015943 eosinophilic granulomatosis with polyangiitis http://purl.obolibrary.org/obo/MONDO_0012105 granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri http://purl.obolibrary.org/obo/MONDO_0005131 cervical carcinoma A adenocarcinoma that involves the uterine cervix. http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0005045 hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0016359 limited systemic sclerosis http://purl.obolibrary.org/obo/MONDO_0005100 systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/MONDO_0016367 dermatomyositis http://purl.obolibrary.org/obo/MONDO_0019127 polymyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/MONDO_0016407 oligomeganephronia http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/MONDO_0016486 beta-thalassemia major http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/MONDO_0016487 beta-thalassemia intermedia http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/MONDO_0016548 megacystis-megaureter syndrome http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/MONDO_0017255 panuveitis (disease) http://purl.obolibrary.org/obo/MONDO_0020283 uveitis (disease) A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/MONDO_0006600 pigmentation disease A pigmentation disease that involves the zone of skin. http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/MONDO_0019722 glomerular disease http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease A disease involving the renal glomerulus. http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality A disease that has its basis in the disruption of embryonic morphogenesis. http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly A chromosomal anomaly that involves an autosome. http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0018912 Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/MONDO_0021059 head or neck disease/disorder http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region Any disease or disorder affecting the head and/or neck region. http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/MONDO_0021061 neurofibromatosis http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm http://purl.obolibrary.org/obo/MONDO_0004992 cancer A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm A neoplasm arising from arteries or veins. http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease http://purl.obolibrary.org/obo/MONDO_0005046 immune system disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder A disease that disrupts the functioning of an organ system. http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus A neoplasm (disease) that involves the uterine cervix. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder A neoplasm (disease) that involves the nervous system. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/HP_0032039 Abnormality of the ocular adnexa http://purl.obolibrary.org/obo/HP_0000315 Abnormality of the orbital region An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease http://purl.obolibrary.org/obo/MONDO_0005113 bacterial infectious disease Infection due to organisms from the genus Mycobacteria. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020598 malabsorption syndrome http://purl.obolibrary.org/obo/MONDO_0005020 intestinal disease A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/MONDO_0020602 Simpson-Golabi-Behmel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0020683 acute disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder Disease having a short and relatively severe course. http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0020696 vitamin B12 deficiency http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0021750 pyonephrosis http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease Pus within the collecting system of the kidney. http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0022034 lentivirus infection http://purl.obolibrary.org/obo/MONDO_0005108 viral infectious disease Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0023551 C1q nephropathy http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/MONDO_0003900 connective tissue disease An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Fanconi Syndrome caused by exposure to noxious agents. http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma http://purl.obolibrary.org/obo/MONDO_0040679 urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0036295 renal pelvis/ureter http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/OPMI_0000021 high school completion, GED or equivalent http://purl.obolibrary.org/obo/OPMI_0000111 education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000022 answer to question http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is the answer to a specific question http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000023 yes answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is Yes. http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000024 no answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question where the answer is No. http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000026 do not know due to data unavailable answer to question http://purl.obolibrary.org/obo/OPMI_0000025 unknown answer to question A do not know answer to question that is answered due to data unavailable http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/OPMI_0000028 other answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/OPMI_0000029 none answer to question http://purl.obolibrary.org/obo/OPMI_0000022 answer to question An answer to question that is not listed in the whole list of response options http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is a question presented in text http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/OPMI_0000032 eligibility assessment form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question that includes a list of enumerated answers http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000036 question with yes and no responses http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/OPMI_0000037 question with enumerated responses where only one answer chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can only choose one answer. http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OPMI_0000038 question with enumerated responses where multiple answers may be chosen http://purl.obolibrary.org/obo/OPMI_0000035 question with enumerated responses A question with enumerated responses where one can choose multiple answers. http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/OPMI_0000047 sanitation http://purl.obolibrary.org/obo/BFO_0000015 process A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/OPMI_0000048 contact information form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF A form that includes the information of contact for a person http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF A clinical report form that covers the information about the tracking of biopsied tissue http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/HP_0032417 Periglomerular fibrosis http://purl.obolibrary.org/obo/HP_0031264 Abnormal Bowman capsule morphology Circumferential fibrosis in the interstitium surrounding Bowman's capsule http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/GO_0140353 lipid export from cell http://purl.obolibrary.org/obo/GO_0006869 lipid transport The directed movement of a lipid from a cell, into the extracellular region. http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/ICO_0000213 incomplete informed consent form http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/ICO_0000214 complete informed consent form indicating consent http://purl.obolibrary.org/obo/ICO_0000001 informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/ICO_0000222 signature http://purl.obolibrary.org/obo/IAO_0000030 information content entity An information content entity that is a handwritten depiction of a name. http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial http://purl.obolibrary.org/obo/IAO_0000300 textual entity A textual entity that is the title of a clinical trial http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/OPMI_0000291 official title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is recorded as official http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OPMI_0000292 lay title of clinical trial http://purl.obolibrary.org/obo/OPMI_0000290 title of clinical trial A title of clinical trial that is meant for lay people understanding http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OPMI_0000293 investigator http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A person who performs an investigation task and takes the role of an investigator role. http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/OPMI_0000294 clinical investigator http://purl.obolibrary.org/obo/OPMI_0000293 investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/OPMI_0000295 study start date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study starts http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/OPMI_0000296 clinical trial start date http://purl.obolibrary.org/obo/OPMI_0000295 study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/OPMI_0000297 study completion date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region The date on which a study completes http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/OPMI_0000298 clinical trial study completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000299 clinical trial primary completion date http://purl.obolibrary.org/obo/OPMI_0000297 study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000302 date of registration http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a registration occurs http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000304 recruitment status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000308 clinical study participant candidate http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens A human being who is a candidate to participant in a clinical study http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/OPMI_0000313 today's date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date of the present date http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/OPMI_0000321 date of first test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the first time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/OPMI_0000322 date of test http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region a date when a test is performed http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://purl.obolibrary.org/obo/OPMI_0000323 date of second test http://purl.obolibrary.org/obo/OPMI_0000322 date of test a date when a test is performed at the second time http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000325 sign date http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region A date when a document is signed http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/OPMI_0000327 study status http://purl.obolibrary.org/obo/OPMI_0000326 status The current stage of a clinical study and whether it is or will be open for enrollment http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000329 exclusion criterion - obsolete http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000330 bleeding exclusion criteria http://purl.obolibrary.org/obo/OBI_0500028 exclusion criterion An exclusion criterion that relates to the process of bleeding http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/OPMI_0000333 biopsy kit identifier http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier A centrally registered identifier that is for a kit used in biopsy http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/OPMI_0000334 KPMP PROMIS form http://purl.obolibrary.org/obo/OPMI_0000331 PROMIS form A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/OPMI_0000335 biopsy pass http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy attempt http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000336 needle biopsy http://purl.obolibrary.org/obo/OPMI_0000274 biopsy A biopsy that uses needle http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000337 health status question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual question about health condition http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000338 what health status http://purl.obolibrary.org/obo/OPMI_0000337 health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000351 unwilling to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000352 willing to receive a blood transfusion http://purl.obolibrary.org/obo/OPMI_0000350 consent status A consent status that indicates a participate willing to receive a procedure of blood transfusion http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000357 UMIN-CTR clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000363 Phase I/II clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 1 and 2 http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000373 Phase II/III clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that covers both Phase 2 and 3 http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000376 behavioral intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0004479 medical history information provider role http://purl.obolibrary.org/obo/OMRSE_00000012 health care provider role A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0004480 study participant's family member role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes A role of a person who is a family member of a participant in an investigation study. http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/OPMI_0004481 study participant's physician role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role a role of a physician who takes care of a study participant http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/PATO_0000011 age An age when a disease started in a patient http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/PATO_0000011 age An age when a medication is first used http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0004512 Phase 4 clinical trial http://purl.obolibrary.org/obo/OPMI_0004507 clinical trial A clinical trial that is at Phase 4 http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/CL_0009019 nephrogenic zone cell http://purl.obolibrary.org/obo/CL_0002681 kidney cortical cell A kidney cortical cell that is part of the nephrogenic zone. http://purl.obolibrary.org/obo/CL_0010017 zygote http://purl.obolibrary.org/obo/CL_0000000 cell A zygote in a plant or an animal. http://purl.obolibrary.org/obo/HP_0033396 Glomerular extracapillary fibrin http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/HP_0033397 Bowman-space proteinaceous debris http://purl.obolibrary.org/obo/HP_0033312 Abnormal Bowman space morphology The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/HP_0033483 Podocyte infolding http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/HP_0033485 Glomerular basement membrane disruption http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Anomalous appearance or structure of the surface of the glomerular basement membrane. http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes powdery deposit http://purl.obolibrary.org/obo/HP_0033486 Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity http://purl.obolibrary.org/obo/HP_0025363 Glomerular endocapillary hypercellularity Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/HP_0033489 Glomerular endocapillary neutrophil hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/HP_0033490 Glomerular endocapillary foam-cell hypercellularity http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary leukocyte hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/HP_0033491 Global mesangial sclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/HP_0033492 Podocyte cytoskeletal condensation http://purl.obolibrary.org/obo/HP_0031265 Abnormal glomerular visceral epithelial cell morphology Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/HP_0033493 Mesangial matrix expansion http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/HP_0033494 Glomerular basement membrane amyloid spicule http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://purl.obolibrary.org/obo/HP_0033496 Perihilar segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/HP_0033497 Tip variant segmental glomerulosclerosis http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/HP_0033498 Segmental glomerulosclerosis away from the vascular and tubular poles http://purl.obolibrary.org/obo/HP_0033495 Segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/HP_0033500 Subendothelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/HP_0033501 Subepithelial glomerular basement membrane electron dense deposits http://purl.obolibrary.org/obo/HP_0033499 Glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition http://purl.obolibrary.org/obo/HP_0001966 Abnormal glomerular mesangium morphology Extracellular mesangial accumulation of slender proteinaceous fibers. http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/HP_0033545 Mesangial fibrillary deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/HP_0033546 Mesangial microfibril deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/HP_0033547 Mesangial immunotactoid deposits http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://purl.obolibrary.org/obo/HP_0033548 Mesangial amyloid deposition http://purl.obolibrary.org/obo/HP_0033544 Mesangial fibril deposition Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/HP_0033549 Nodular mesangiosclerosis http://purl.obolibrary.org/obo/HP_0033232 Abnormal glomerular mesangial matrix morphology Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://purl.obolibrary.org/obo/HP_0033591 Staghorn calculus http://purl.obolibrary.org/obo/HP_0000787 Nephrolithiasis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/HP_0033599 Glomerular amyloid subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/HP_0033600 Fibrillary glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0033598 Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/HP_0033601 Glomerular subepithelial immune-complex deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/HP_0033602 Glomerular hyaline subepithelial deposits http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/HP_0033603 Glomerular subepithelial deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/HP_0033604 Glomerular capillary wire loop deposits http://purl.obolibrary.org/obo/HP_0030949 Glomerular deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease An instance of cutis laxa that is inherited. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/MONDO_0100245 acquired paroxysmal nocturnal hemoglobinuria http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata bony vertebrates http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OBI_0100026 organism eukaryotes http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha tetrapods http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda amniotes http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta multicellular animals http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota mammals http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata vertebrates http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000008313 AXIN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ODCRCS http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OGG_3000008829 NRP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NP1 http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OGG_3000008854 ALDH1A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RALDH2-T http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OGG_3000009037 SEMA5A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens semF http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/OGG_3000009055 PRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ASE1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/OGG_3000009076 CLDN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ILVASC http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000009133 CCNB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT17299 http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/OGG_3000009235 IL32 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAIFd http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OGG_3000009315 NREP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SEZ17 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/OGG_3000009332 CD163 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MM130 http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/OGG_3000009356 SLC22A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HOAT1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OGG_3000009376 SLC22A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT3 http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OGG_3000009378 NRXN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCZD17 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/OGG_3000009390 SLC22A13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCTL3 http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000009476 NAPSA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SNAPA http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000009509 ADAMTS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PNPI http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGG_3000009582 APOBEC3B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bK150C2.2 http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OGG_3000009628 RGS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GAP http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/OGG_3000009770 RASSF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RASFADIN http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/OGG_3000009839 ZEB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPC082 http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/OGG_3000009934 P2RY14 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BPR105 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000010087 COL4A3BP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STARD11 http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/OGG_3000010123 ARL4C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAK http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/OGG_3000010225 CD96 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TACTILE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000010288 LILRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CD85D http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/OGG_3000010318 TNIP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ABIN-1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/OGG_3000010406 WFDC2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ461P17.6 http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/OGG_3000010409 BASP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NAP-22 http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OGG_3000010410 IFITM3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IP15 http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OGG_3000010462 CLEC10A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HML2 http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000010488 CREB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LUMAN http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OGG_3000010516 FBLN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EVEC http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OGG_3000010563 CXCL13 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BLR1L http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000010578 GNLY http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LAG-2 http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/OGG_3000010581 IFITM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 1-8D http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000010631 POSTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLPOSTN http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OGG_3000010786 SLC17A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT4 http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000010864 SLC22A7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OAT2 http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000010875 FGL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T49 http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OGG_3000011045 UPK1A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPKA http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OGG_3000011065 UBE2C http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens dJ447F3.2 http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000011155 LDB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDLIM6 http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/OGG_3000011174 ADAMTS6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ADAMTS-6 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000011249 NXPH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPH2 http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/OGG_3000022854 NTNG1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Lmnt1 http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000022915 MMRN1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GPIa* http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000023213 SULF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SULF-1 http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/OGG_3000023231 SEL1L3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Sel-1L3 http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000023586 DDX58 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIGI http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000023607 CD2AP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMS http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000026762 HAVCR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KIM1 http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OGG_3000027074 LAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DC-LAMP http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/OGG_3000027122 DKK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RIG http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000027164 SALL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ZNF796 http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000164 primary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 1st care provider http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000239 What physician's specialty http://purl.obolibrary.org/obo/OPMI_0000238 physician question What is the physician's specialty? http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0000241 what name of hospital http://purl.obolibrary.org/obo/OPMI_0000240 hospital question What is name of clinic or hospital http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000030 textual question postal address question http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/OPMI_0000244 What city http://purl.obolibrary.org/obo/OPMI_0000242 address question What is the city name? http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000248 What apartment http://purl.obolibrary.org/obo/OPMI_0000242 address question What apartment number http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000249 What country http://purl.obolibrary.org/obo/OPMI_0000242 address question Which country? http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000250 Whether have physician for usual medical care http://purl.obolibrary.org/obo/OPMI_0000238 physician question Do you have physician who provides your usual medical care? http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000251 nephrology care provider http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider nephrologist care provider http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000606 primary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis primary admission diagnosis http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OMRSE_00000077 employee role http://purl.obolibrary.org/obo/OMRSE_00000086 human role within an organization employee http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/OPMI_0000463 imaging disease biomarkers by MRI http://purl.obolibrary.org/obo/OPMI_0000461 imaging disease biomarker imaging disease biomarkers by magnetic resonance imaging http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000377 study accession identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID study accession http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/OPMI_0000380 title of study http://purl.obolibrary.org/obo/IAO_0000300 textual entity title of investigation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000166 secondary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 2nd care provider http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000167 tertiary care provider http://purl.obolibrary.org/obo/OPMI_0000163 care provider 3rd care provider http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000174 Whether BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/OPMI_0000173 BMI question Whether BMI greater than 40 kg/m2 http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000028513 CDH19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDH7L2 http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/OGG_3000029760 BLNK http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bca http://purl.obolibrary.org/obo/OGG_3000030009 TBX21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-bet http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/OGG_3000030835 CD209 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CDSIGN http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/OGG_3000030845 EHD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAST3 http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000050943 FOXP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens XPID http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OGG_3000050964 SOST http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VBCH http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/OGG_3000051192 CKLF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UCK-1 http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/OGG_3000051237 MZB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens pERp1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/OGG_3000051303 FKBP11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens FKBP19 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000051561 IL23A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IL23P19 http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000051594 NBAS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SOPH http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000051705 EMCN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC14 http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000053405 CLIC5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP130 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000053828 FXYD4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CHIF http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/OGG_3000054474 KRT20 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT21 http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OGG_3000054504 CPVL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HVLP http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000054738 FEV http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PET-1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000054873 PALMD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PALML http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OGG_3000055586 MIOX http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALDRL6 http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000056302 TRPV5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ECAC1 http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000057520 HECW2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NEDL2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/OGG_3000057794 SUGP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens F23858 http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/OGG_3000058473 PLEKHB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHRET1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/OGG_3000058510 PRODH2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HSPOX1 http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OGG_3000060676 PAPPA2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPPE http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OGG_3000063895 PIEZO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT771 http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/OGG_3000064135 IFIH1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RLR-2 http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000064231 MS4A6A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSTP090 http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000064321 SOX17 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VUR3 http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000064785 GINS3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PSF3 http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/OGG_3000064849 SLC13A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDCT2 http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000079037 PVRIG http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C7orf15 http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000079827 CLMP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSBM http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/OGG_3000079839 CCDC102B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT1731 http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - .jpg images QC form http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF Dx core - disease categories form http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/OPMI_0000030 textual question A textual quesition thta is about medical history of a person http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/OPMI_0000360 European clinical trial registry identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID EudraCT identifier http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000374 radiation http://purl.obolibrary.org/obo/OAE_0002807 medical procedure radiation procedure http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/OGG_3000003815 KIT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens C-Kit http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OGG_3000003816 KLK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hK1 http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OGG_3000003852 KRT5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens KRT5A http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/OGG_3000003856 KRT8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens K2C8 http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000003934 LCN2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSFI http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/OGG_3000004036 LRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP330 http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/OGG_3000004060 LUM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLRR2D http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004064 CD180 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RP105 http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/OGG_3000004067 LYN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p56Lyn http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/OGG_3000004070 TACSTD2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GP50 http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/OGG_3000004071 TM4SF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens L6 http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000004082 MARCKS http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 80K-L http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/OGG_3000004084 MXD1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens BHLHC58 http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OGG_3000004162 MCAM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MUC18 http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/OGG_3000004261 CIITA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NLRA http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OGG_3000004314 MMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STMY http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000004316 MMP7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PUMP-1 http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/OGG_3000004318 MMP9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MANDP2 http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OGG_3000004332 MNDA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PYHIN3 http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/OGG_3000004360 MRC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens bA541I19.1 http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OGG_3000004481 MSR1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phSR2 http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/OGG_3000004599 MX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MxA http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/OGG_3000004616 GADD45B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GADD45BETA http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/OGG_3000004629 MYH11 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMHC http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/OGG_3000004684 NCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MSK39 http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/OGG_3000004688 NCF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P67-PHOX http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/OGG_3000004818 NKG7 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens p15-TIA-1 http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://purl.obolibrary.org/obo/OGG_3000004842 NOS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NOS http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OGG_3000004868 NPHS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CNF http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/OGG_3000004907 NT5E http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eNT http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/OGG_3000004914 NTRK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TRKA http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OGG_3000004916 NTRK3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp145(trkC) http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/OGG_3000004938 OAS1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OIASI http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OGG_3000005052 PRDX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PRXI http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/OGG_3000005076 PAX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PAPRS http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/OGG_3000005118 PCOLCE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCPE http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005155 PDGFB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens c-sis http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OGG_3000005159 PDGFRB http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDGFR1 http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/OGG_3000005172 SLC26A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TDH2B http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OGG_3000005174 PDZK1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CLAMP http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/OGG_3000005175 PECAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens endoCAM http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OGG_3000005270 SERPINE2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens GDNPF http://purl.obolibrary.org/obo/OGG_3000005327 PLAT http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens T-PA http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/OGG_3000005329 PLAUR http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens URKR http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/OGG_3000005345 SERPINF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ALPHA-2-PI http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/OGG_3000005420 PODXL http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PCLP-1 http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OGG_3000005450 POU2AF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens OCAB http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/OGG_3000005473 PPBP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THBGB http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005764 PTN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HBGF8 http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/OGG_3000005788 PTPRC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens LY5 http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005803 PTPRZ1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens phosphacan http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/OGG_3000005909 RAP1GAP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RAPGAP http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005947 RBP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RBPC http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/OGG_3000005950 RBP4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RDCCAS http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005972 REN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HNFJ2 http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/OGG_3000006016 RIT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NS8 http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/OGG_3000006035 RNASE1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RNS1 http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/OGG_3000006091 ROBO1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/OGG_3000006092 ROBO2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SAX3 http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/OGG_3000006097 RORC http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RZR-GAMMA http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006241 RRM2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens RR2M http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/OGG_3000006275 S100A4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P9KA http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006277 S100A6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens 2A9 http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/OGG_3000006279 S100A8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MA387 http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006280 S100A9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MAC387 http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/OGG_3000006326 SCN2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav1.2 http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006332 SCN7A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens Nav2.2 http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006340 SCNN1G http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHA1 http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/OGG_3000006347 CCL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SMC-CF http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/OGG_3000006351 CCL4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP1B1 http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006352 CCL5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens eoCP http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000006363 CCL19 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MIP-3b http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/OGG_3000006366 CCL21 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CKb9 http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006372 CXCL6 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SCYB6 http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OGG_3000006382 SDC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SYND1 http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OGG_3000006401 SELE http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ESEL http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/OGG_3000006423 SFRP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SDF-5 http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/OGG_3000006457 SH3GL3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HsT19371 http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006519 SLC3A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens D2H http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006521 SLC4A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WD1 http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006522 SLC4A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NBND3 http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006524 SLC5A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SGLT2 http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OGG_3000006546 SLC8A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCX1 http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000006550 SLC9A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NHE3 http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000006557 SLC12A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NKCC2 http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/OGG_3000006559 SLC12A3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NCCT http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000006561 SLC13A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NaSi-1 http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/OGG_3000006563 SLC14A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UT-B1 http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006568 SLC17A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NPT-1 http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/OGG_3000006569 SLC34A1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SLC11 http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/MONDO_0021124 female infertility http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor http://purl.obolibrary.org/obo/MONDO_0002531 skin neoplasm http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/OPMI_0000426 organic chemical entity http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_693660 unclassified Primate lentivirus group http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000365 combinational intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OPMI_0000375 genetic intervention http://purl.obolibrary.org/obo/OAE_0000002 medical intervention http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000392 Topical ocular hypotensive eye drops http://purl.obolibrary.org/obo/OAE_0002807 medical procedure http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011290 Biological Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000002 Chemical Ingredients [Chemical/Ingredient] http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000007 Infectious Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000220 Electrolyte Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000226 Acid-Base Activity [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000065 Physiochemical Activity [MoA] http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000085 Receptor Interactions [MoA] http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000193 Ion Channel Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000223 Cellular or Molecular Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000103 Reverse Transcriptase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000233 Nucleic Acid Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000265 Abnormalities, Drug-Induced [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000264 Congenital Abnormalities [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000523 Bacterial Infections and Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010965 Blood Coagulation Disorders, Inherited [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011105 Genetic Diseases, Inborn [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000575 Blood Coagulation Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000943 Dermatitis, Atopic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001323 Genital Diseases, Female [Disease/Finding] http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001429 Heart Arrest [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001432 Heart Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002730 Shock, Hemorrhagic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002728 Shock [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001647 Hypoprothrombinemias [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004004 Coagulation Protein Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001270 Food Hypersensitivity [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001612 Hypersensitivity, Immediate [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001384 Graft vs Host Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181137 Nephrolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001499 Hepatitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001866 Liver Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001883 Lung Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002004 Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000653 Candidiasis, Oral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002121 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002128 Neoplasms [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002197 Nutritional and Metabolic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000490 Ascites [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002338 Pathologic Processes [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000911 Dehydration [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003288 Overdose [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002447 Poisoning [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002604 Respiratory Tract Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003576 Skin Diseases, Eczematous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002761 Skin Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000351 Alcohol Withdrawal Delirium [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004088 Alcohol-Induced Disorders, Nervous System [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000819 Coma [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003064 Unconsciousness [Disease/Finding] http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003086 Urologic Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003547 Skin Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003128 Virus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001577 Hypercalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001590 Hyperkalemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001598 Hypernatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000646 Calcium Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001640 Hyponatremia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003154 Water-Electrolyte Imbalance [Disease/Finding] http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000875 Crohn Disease [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003206 Inflammatory Bowel Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000647 Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004178 Pathological Conditions, Anatomical [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002059 Muscle Hypotonia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004213 Neuromuscular Manifestations [Disease/Finding] http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002916 Tetany [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001632 Hypocalcemia [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005723 Carbohydrates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007818 Membrane Lipids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006185 Lipids [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007711 Chlorides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007605 Quinazolines [Chemical/Ingredient] http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008176 Fatty Acids, Volatile [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007684 Organophosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007676 Organic Chemicals [Chemical/Ingredient] http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007642 Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008259 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007720 Steroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008181 Quinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007874 Peptides [Chemical/Ingredient] http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007992 Metals, Alkaline Earth [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007973 Hydrocarbons [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007983 Hydroxy Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008156 Phosphorus Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008237 Metals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008257 Inorganic Chemicals [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011331 Polycyclic Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008337 Cellular Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009065 Hematologic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009070 Hemostasis Alteration [PE] http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009549 Increased Renal HCO3- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009552 Increased Renal Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009547 Increased Renal Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009385 Increased Loop of Henle K+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009387 Increased Loop of Henle Na+ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009361 Increased Intravascular Volume [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009732 Intravascular Volume Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009755 Musculoskeletal Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009832 Renal/Urological Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009836 Respiratory Secretion Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009839 Respiratory/Pulmonary Activity Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009957 Ergosterol Synthesis Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009956 Sterol Synthesis Inhibitors [MoA] http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010574 Drug Products by VA Class http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182970 BELATACEPT http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146043 CHOLECALCIFEROL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146099 CHLOROTHIAZIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146124 DEXTROSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020502 DEXTROSE/PERITONEAL DIALYSIS SOLUTION http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010596 N [Preparations] http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145832 SODIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147258 VITAMIN K http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010604 V [Preparations] http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001586 Hyperglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001635 Hypoglycemia [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011123 Glucose Metabolism Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000178749 Azabicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007813 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171642 Renal Insufficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175979 Increased Coagulation Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175977 Coagulation Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/MONDO_0020739 autosomal recessive infantile hypercalcemia 1 http://purl.obolibrary.org/obo/MONDO_0007749 autosomal recessive infantile hypercalcemia http://purl.obolibrary.org/obo/MONDO_0013719 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0014915 short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/MONDO_0033203 nephrotic syndrome 14 http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0017432 syndrome with limb reduction defects http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/MONDO_0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome http://purl.obolibrary.org/obo/MONDO_0015226 syndrome with limb malformations as a major feature http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0018455 dysostosis of genetic origin with limb anomaly as a major feature http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0019183 inherited odontologic disease http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/MONDO_0060781 Preeyasombat-Varavithya syndrome http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/UBERON_0011860 collection of collagen fibrils http://purl.obolibrary.org/obo/UBERON_0000476 acellular anatomical structure http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/PATO_0000001 quality http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000160 body weight http://purl.obolibrary.org/obo/PATO_0000128 weight http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease http://purl.obolibrary.org/obo/MONDO_0000001 disease or disorder http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0015919 syndromic neurometabolic disease with non-X-linked intellectual disability http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin http://purl.obolibrary.org/obo/MONDO_0001531 blood coagulation disease http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/MONDO_0021921 Arnold stickler bourne syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/MONDO_0022948 Deal Barratt Dillon syndrome http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0043207 urethral obstruction sequence http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0043075 neuroaxonal dystrophy renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type http://purl.obolibrary.org/obo/MONDO_0003847 Mendelian disease http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0002263 female reproductive system disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0033262 nephrotic syndrome 15 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0026726 nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0032580 nephrotic syndrome, type 17 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0032581 nephrotic syndrome, type 18 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/MONDO_0032582 nephrotic syndrome, type 19 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/MONDO_0032826 nephrotic syndrome, type 21 http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019182 monogenic obesity http://purl.obolibrary.org/obo/MONDO_0011122 obesity disorder http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer http://purl.obolibrary.org/obo/MONDO_0004992 cancer http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005027 epilepsy http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance http://purl.obolibrary.org/obo/MONDO_0005066 metabolic disease http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement http://purl.obolibrary.org/obo/MONDO_0005071 nervous system disorder http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0005087 respiratory system disease http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder http://purl.obolibrary.org/obo/MONDO_0005093 skin disease http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0015968 rare genetic hypothalamic or pituitary disease http://purl.obolibrary.org/obo/MONDO_0005151 endocrine system disease http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/MONDO_0005172 skeletal system disease http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0043112 lachiewicz sibley syndrome http://purl.obolibrary.org/obo/MONDO_0005240 kidney disease http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy http://purl.obolibrary.org/obo/MONDO_0005308 ciliopathy http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/MONDO_0015506 rare syndrome with cardiac malformations http://purl.obolibrary.org/obo/MONDO_0005267 heart disease http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020222 rare disease with glaucoma as a major feature http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/MONDO_0020266 genodermatosis with ocular features http://purl.obolibrary.org/obo/MONDO_0005328 eye disease http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/MONDO_0013496 IGAN2 http://purl.obolibrary.org/obo/MONDO_0005342 IgA glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/MONDO_0043156 nephrotic syndrome ocular anomalies http://purl.obolibrary.org/obo/MONDO_0005377 nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/MONDO_0005385 vascular disease http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0005497 bone development disease http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm http://purl.obolibrary.org/obo/MONDO_0005626 epithelial neoplasm http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0021746 pyelocystitis http://purl.obolibrary.org/obo/MONDO_0006938 pyelitis http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0007236 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/MONDO_0023182 Franceschini Vardeu Guala syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/MONDO_0024525 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/MONDO_0029132 Liddle syndrome 3 http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0054738 Fraser syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0054739 Fraser syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/MONDO_0020728 hypouricemia, renal 1 http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0023513 Jeune syndrome situs inversus http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/MONDO_0033005 Galloway-Mowat syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/MONDO_0033007 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/MONDO_0033008 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0033009 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/MONDO_0032691 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/MONDO_0032692 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/MONDO_0032693 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/MONDO_0016061 immunodeficiency with factor H anomaly http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic deafness http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/MONDO_0024520 renal hypodysplasia/aplasia 3 http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0033485 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/MONDO_0036483 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0014907 short-rib thoracic dysplasia 15 with polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis http://purl.obolibrary.org/obo/MONDO_0018882 vasculitis http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0033044 Meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0033669 Noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/MONDO_0032786 Noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0032839 noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal anomaly http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0013945 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger syndrome http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0032646 congenital anomalies of kidney and urinary tract 3 http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/MONDO_0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/MONDO_0020042 syndrome with 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/MONDO_0015320 Pierre Robin syndrome associated with a chromosomal anomaly http://purl.obolibrary.org/obo/MONDO_0018187 genetic syndromic Pierre Robin syndrome http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/MONDO_0018413 female infertility due to an anomaly of ovarian function of genetic origin http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0019703 primary bone dysplasia with increased bone density http://purl.obolibrary.org/obo/MONDO_0019705 primary bone dysplasia with defective bone mineralization http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0016932 partial duplication of chromosome 11 http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020253 syndrome with a symptomatic strabismus http://purl.obolibrary.org/obo/MONDO_0020251 rare strabismus and restriction syndrome http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/HP_0032628 Renal intratubular crystals http://purl.obolibrary.org/obo/HP_0000091 Abnormal renal tubule morphology http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/HP_0032583 Renal glomerular foam cells http://purl.obolibrary.org/obo/HP_0003651 Foam cells http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/HP_0033215 Obliterative abnormality of the renal glomerulus http://purl.obolibrary.org/obo/HP_0000095 Abnormal renal glomerulus morphology http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/HP_0008695 Transient nephrotic syndrome http://purl.obolibrary.org/obo/HP_0000100 Nephrotic syndrome http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0008272 Renal tubular lysine transport defect http://purl.obolibrary.org/obo/HP_0000124 Renal tubular dysfunction http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/HP_0008496 Multiple rows of eyelashes http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/HP_0007663 Reduced visual acuity http://purl.obolibrary.org/obo/HP_0000505 Visual impairment http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/HP_0040202 Abnormal consumption behavior http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/HP_0008651 Uric acid urolithiasis independent of gout http://purl.obolibrary.org/obo/HP_0000791 Uric acid nephrolithiasis http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/HP_0004910 Bicarbonate-wasting renal tubular acidosis http://purl.obolibrary.org/obo/HP_0001947 Renal tubular acidosis http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/HP_0005571 Increased renal tubular phosphate reabsorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/HP_0008666 Impaired histidine renal tubular absorption http://purl.obolibrary.org/obo/HP_0011038 Abnormal renal tubular resorption http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/OPMI_0000414 obsolete class http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/BFO_0000004 independent continuant http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/BFO_0000017 realizable entity http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000010 protein_coding http://purl.obolibrary.org/obo/BFO_0000019 quality http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/BFO_0000019 quality http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OMRSE_00000048 material entity role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/ENVO_00000004 administrative region http://purl.obolibrary.org/obo/BFO_0000029 site http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000353 year http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OGMS_0000087 extended organism http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/OPMI_0000406 investigation agent http://purl.obolibrary.org/obo/BFO_0000040 material entity http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CARO_0000007 immaterial anatomical entity http://purl.obolibrary.org/obo/BFO_0000141 immaterial entity http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OPMI_0000019 precision medicine objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/IAO_0000027 data item http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/IAO_0000109 measurement datum http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/OPMI_0000332 kit identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/IAO_0000578 CRID http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/OPMI_0000163 care provider http://purl.obolibrary.org/obo/NCBITaxon_9606 Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OPMI_0000312 answering textual question http://purl.obolibrary.org/obo/OBI_0000011 planned process http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/PATO_0000011 age http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/PR_000003171 IGFBP-related protein http://purl.obolibrary.org/obo/PR_000000001 protein http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/OMRSE_00000087 employer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OMRSE_00000095 payer role http://purl.obolibrary.org/obo/OMRSE_00000024 role in human social processes http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/CL_0008035 microcirculation associated smooth muscle cell http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/NCBITaxon_131209 Zygnemophyceae http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000008516 ITGA8 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OGG_3000010266 RAMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OGG_3000010268 RAMP3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OGG_3000011346 SYNPO http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/OGG_3000022936 ELL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/OGG_3000023314 SATB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OGG_3000079772 MCTP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/OGG_3000079961 DENND2D http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OGG_3000005008 OSM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000005629 PROX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/OGG_3000879877 ldh http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/OGG_3000882262 ggt http://purl.obolibrary.org/obo/OGG_2060208964 protein-coding gene of Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia http://purl.obolibrary.org/obo/MONDO_0018398 female infertility due to a congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015153 autosomal monosomy http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0033288 Glomerular basement membrane spikes http://purl.obolibrary.org/obo/HP_0033282 Abnormal glomerular basement membrane morphology http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CHEBI_33837 conjugated protein http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_35295 homopolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_35427 ortho-fused polycyclic hydrocarbon http://purl.obolibrary.org/obo/CHEBI_33637 ortho-fused compound http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/HP_0033286 Thickened glomerular basement membranes with electron dense deposits http://purl.obolibrary.org/obo/HP_0004722 Thickened glomerular basement membrane http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0004916 Generalized distal tubular acidosis http://purl.obolibrary.org/obo/HP_0008341 Distal renal tubular acidosis http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/HP_0005572 Decreased renal tubular phosphate excretion http://purl.obolibrary.org/obo/HP_0011036 Abnormality of renal excretion http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/HP_0004340 Abnormality of vitamin B metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0100511 Abnormality of vitamin D metabolism http://purl.obolibrary.org/obo/HP_0100508 Abnormality of vitamin metabolism http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_11652 Primate lentivirus group http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Proteobacteria http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_208964 Pseudomonas aeruginosa PAO1 http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_4891 Saccharomycetes http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_4892 Saccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/NCBITaxon_6073 Cnidaria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/BFO_0000001 entity http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Corynebacteriales http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/UBERON_0035050 excretory duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0018254 skeletal musculature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/CARO_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/UBERON_0009911 lobule http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/UBERON_0009089 inner medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/UBERON_0009090 outer medulla vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009091 vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0009092 inner medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009093 outer medulla vasa recta ascending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009095 tip of renal papilla http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/UBERON_0009202 vasa recta descending limb http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/UBERON_0011159 primary subdivision of cranial skeletal system http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/UBERON_0000112 sexually immature stage http://purl.obolibrary.org/obo/UBERON_0000105 life cycle stage http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000153 anterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/UBERON_0000154 posterior region of body http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/UBERON_2001089 myoseptum http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010536 nephron progenitor http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/UBERON_0012361 internal anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/UBERON_0012469 external anal region http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium http://purl.obolibrary.org/obo/UBERON_0001048 primordium http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/UBERON_0012139 segment of autopod http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005606 hyaloid cavity http://purl.obolibrary.org/obo/UBERON_0012467 enclosed anatomical space http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/UBERON_0005113 metanephric cortex mesenchyme http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0019267 gray matter of midbrain http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/UBERON_0011222 intra-ocular muscle http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005339 outflow tract pulmonary component http://purl.obolibrary.org/obo/UBERON_0004145 outflow tract http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009196 indifferent external genitalia http://purl.obolibrary.org/obo/UBERON_0004176 external genitalia http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/UBERON_0008836 liver bud http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/UBERON_0000158 membranous layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/UBERON_0009145 pharyngeal region of foregut http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010531 metanephros induced blastemal cells http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/UBERON_0005865 pre-muscle condensation http://purl.obolibrary.org/obo/UBERON_0005856 developing mesenchymal condensation http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006136 unmyelinated nerve fiber http://purl.obolibrary.org/obo/UBERON_0006134 nerve fiber http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest http://purl.obolibrary.org/obo/UBERON_0007530 migrating mesenchyme population http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/UBERON_0010700 phalanx pre-cartilage condensation http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/UBERON_0010191 aortic system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0011824 fibrous connective tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0010701 phalanx cartilage element http://purl.obolibrary.org/obo/UBERON_0015064 autopod cartilage http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/CMO_0000021 body morphological measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000000 clinical measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0000294 pulse http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0002558 cardiovascular disease measurement http://purl.obolibrary.org/obo/CMO_0000001 cardiovascular measurement http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000003 blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000004 systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000529 pulmonary arterial systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000005 diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000528 pulmonary arterial diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0000006 left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/CMO_0001743 absolute change in left ventricular diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000007 left ventricular systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000010 developed blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/CMO_0000533 absolute change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000778 mean pulmonary arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000782 pulmonary arterial blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001230 change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001965 change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0002035 percent change in mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/CMO_0002296 change in mean arterial blood pressure to change in vasoactive chemical dose ratio http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000018 left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000743 change in calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000699 absolute change in body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001035 head temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/CMO_0001036 core body temperature http://purl.obolibrary.org/obo/CMO_0000015 body temperature http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000228 cardiomyocyte count http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/CMO_0000069 heart wet weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/CMO_0000070 heart dry weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0002953 Heart septum weight http://purl.obolibrary.org/obo/CMO_0000017 heart weight http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000068 organ morphological measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000127 muscle morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000049 blood urea nitrogen level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000376 total serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000543 serum glucose level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/OPMI_0000018 direct serum bilirubin level http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0000026 blood hemoglobin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/CMO_0000054 plasma total protein level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/CMO_0000550 serum albumin level http://purl.obolibrary.org/obo/CMO_0000028 blood protein measurement http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000023 blood chemistry measurement http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0000227 cell measurement http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000210 activated partial thromboplastin time http://purl.obolibrary.org/obo/CMO_0000035 blood measurement http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000029 platelet count http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0000036 blood cell measurement http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000360 serum triglyceride level http://purl.obolibrary.org/obo/CMO_0000050 blood lipid measurement http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002049 serum sterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000363 serum total cholesterol level http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002975 afferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002976 efferent arteriolar plasma protein concentration http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000488 serum bicarbonate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000489 serum chloride level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000495 serum potassium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000500 serum sodium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000503 serum calcium level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000542 serum phosphate level http://purl.obolibrary.org/obo/CMO_0000063 blood electrolyte measurement http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000575 serum alanine aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0000577 serum alkaline phosphatase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000581 serum aspartate aminotransferase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0002244 serum creatine kinase activity level http://purl.obolibrary.org/obo/CMO_0000064 blood enzyme activity level http://purl.obolibrary.org/obo/CMO_0000016 heart morphological measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000071 heart left ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/CMO_0000072 heart right ventricle wet weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002408 heart wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000074 heart weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000075 heart weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001198 heart weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0000073 calculated heart weight http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/CMO_0000077 blood vessel measurement http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://purl.obolibrary.org/obo/CMO_0000080 renal/urinary measurement http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0001953 right kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0001954 left kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/CMO_0000082 right kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/CMO_0000083 left kidney wet weight http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/CMO_0000622 single kidney wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/CMO_0000623 single kidney wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000140 both kidneys wet weight as percentage of body weight http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/CMO_0000340 both kidneys wet weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/CMO_0001199 both kidneys wet weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/CMO_0000081 kidney weight http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0000369 blood eosinophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/CMO_0000370 blood neutrophil count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0000367 blood granulocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/CMO_0000051 blood total cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001158 muscle measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002534 skeletal muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0002533 muscle fiber morphological measurement http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/CMO_0001894 compensatory renal growth score http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://purl.obolibrary.org/obo/CMO_0001951 calculated single kidney weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://purl.obolibrary.org/obo/CMO_0001952 calculated both kidneys weight http://purl.obolibrary.org/obo/CMO_0000160 calculated kidney weight http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000084 single kidney wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/CMO_0000085 both kidneys wet weight http://purl.obolibrary.org/obo/CMO_0000169 kidney wet weight http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/CMO_0001425 both kidneys dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/CMO_0001426 single kidney dry weight http://purl.obolibrary.org/obo/CMO_0000170 kidney dry weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/CMO_0000963 calculated blood vessel diameter measurement http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000969 blood vessel inner diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://purl.obolibrary.org/obo/CMO_0000220 systemic vascular resistance (SVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001543 calculated blood flow measurement http://purl.obolibrary.org/obo/CMO_0000195 circulation measurement http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0000199 venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000196 blood flow rate http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001545 myocardial flow rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000198 arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000908 renal arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001480 aortic blood flow rate http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://purl.obolibrary.org/obo/CMO_0000909 renal venous blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/CMO_0000202 in vitro vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000203 in vivo vessel shear stress http://purl.obolibrary.org/obo/CMO_0000201 vessel shear stress measurement http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/BFO_0000055 realizes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/CMO_0000216 lumen diameter at maximum dilation expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000215 blood vessel dilation measurement http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000219 lumen diameter at maximum constriction expressed as percent of baseline http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000218 blood vessel constriction measurement http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CMO_0001865 immune cell count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/CMO_0000232 RR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000233 PR interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/CMO_0000234 ST interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/CMO_0000235 QT interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/CMO_0000263 P wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000264 P wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000265 Q wave depth http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/CMO_0000266 Q wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000267 QRS duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000268 QRS amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000269 QTC interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000270 R wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000271 R wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000272 S wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000273 S wave duration http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/CMO_0000274 ST amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/CMO_0000275 ST slope http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000276 ST wave displacement http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000277 T wave amplitude http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000278 PP interval http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000238 heart posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000236 heart wall thickness http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/CMO_0000240 heart right ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/CMO_0001840 heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0000239 heart left ventricle posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0000125 urine creatinine level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000257 urine specific gravity http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://purl.obolibrary.org/obo/CMO_0000256 urine measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0001882 absolute change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/CMO_0002723 percent change in pulse pressure http://purl.obolibrary.org/obo/CMO_0000292 pulse pressure http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000334 heart atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000339 heart ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000024 calculated differential white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0000111 blood granulocyte count http://purl.obolibrary.org/obo/CMO_0000366 blood differential white blood cell count http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/CMO_0001495 blood mononuclear cell count http://purl.obolibrary.org/obo/CMO_0002119 mononuclear cell count http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/CMO_0000491 blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000492 blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000493 blood glomerular filtration rate, May Quadratic formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/CMO_0000494 blood glomerular filtration rate, Schwartz formula http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002979 glomerular capillary ultrafiltration coefficient http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0004476 GFR 30-59 mL/min/1.73m2 http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0004477 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/OPMI_0004478 eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/CMO_0000536 glomerulus count http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0000130 urine albumin level http://purl.obolibrary.org/obo/CMO_0000591 urine protein level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/CMO_0000606 left ventricular end-diastolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0002278 absolute diurnal change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/CMO_0000663 time to onset of heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000664 time to peak heart contraction http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000665 heart contraction pressure http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000994 mean velocity of circumferential fiber shortening http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002554 mitral valve closure to opening time http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/CMO_0000669 organ measurement http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0000002 heart rate http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000662 heart contraction measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/CMO_0000678 heart lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0000670 heart measurement http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0000671 heart effluent measurement http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/CMO_0000673 timed heart effluent volume http://purl.obolibrary.org/obo/CMO_0000672 heart effluent volume http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/CMO_0000675 heart effluent enzyme level http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/CMO_0000775 heart effluent lactate dehydrogenase activity level normalized to heart weight http://purl.obolibrary.org/obo/CMO_0000676 heart effluent lactate dehydrogenase activity level http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000677 organ lesion measurement http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/CMO_0000865 heart tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0000859 organ tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/CMO_0000861 heart non-tumorous lesion measurement http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/CMO_0000682 heart left ventricle infarction measurement http://purl.obolibrary.org/obo/CMO_0000680 heart infarction measurement http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/CMO_0000683 infarction size http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/CMO_0000690 heart infarction area http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001015 heart infarction volume http://purl.obolibrary.org/obo/CMO_0000684 heart infarction size http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000691 heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000685 heart left ventricle infarction size http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/CMO_0000687 heart left ventricle infarction size as percentage of total heart left ventricle size http://purl.obolibrary.org/obo/CMO_0000686 calculated heart left ventricle infarction size http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000695 heart left ventricle infarction weight as percentage of total heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000694 calculated heart left ventricle infarction weight http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0000688 heart ventricle weight http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000696 calculated heart infarction weight http://purl.obolibrary.org/obo/CMO_0000689 heart infarction weight http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/CMO_0000693 calculated heart left ventricle infarction area http://purl.obolibrary.org/obo/CMO_0000692 heart left ventricle infarction area http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/CMO_0000700 blood vessel resistance measurement http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/CMO_0000701 pulmonary vascular resistance (PVR) http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/CMO_0000703 calculated pulmonary vascular resistance normalized to body weight http://purl.obolibrary.org/obo/CMO_0000702 calculated pulmonary vascular resistance http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000229 blood vessel endothelial cell count http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000706 blood vessel endothelium measurement http://purl.obolibrary.org/obo/CMO_0000708 FAPGG metabolism-surface area product http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000709 methylene blue metabolism-surface area product without auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0000710 methylene blue metabolism-surface area product after auto-oxidation http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000711 methylene blue to FAPGG metabolism-surface area product ratio http://purl.obolibrary.org/obo/CMO_0000707 calculated blood vessel endothelium measurement http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0000716 blood vessel contractile force measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001653 receptor-independent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0001654 receptor-dependent blood vessel maximum contractile force http://purl.obolibrary.org/obo/CMO_0000717 blood vessel maximum contractile force http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000728 maximum contractile force per wet weight of aorta http://purl.obolibrary.org/obo/CMO_0000718 maximum contractile force per wet weight of vessel http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/CMO_0000739 phenylephrine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/CMO_0001659 angiotensin II response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0000719 chemical response/sensitivity measurement http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000720 calculated blood vessel contractile force measurement http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000724 concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000725 logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000726 concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://purl.obolibrary.org/obo/CMO_0000727 logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0000723 calculated blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/CMO_0000729 blood vessel dilation force reduction measurement http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://purl.obolibrary.org/obo/CMO_0000731 acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000737 acetylcholine response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/CMO_0000732 sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000740 sodium nitroprusside response/sensitivity measurement http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/CMO_0000733 hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/CMO_0000730 blood vessel dilation expressed as percent of force at maximum constriction http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0000735 fast-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000736 slow-slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/CMO_0000734 slope measurement of chemical-induced contraction http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000721 concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0000722 logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002459 phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002458 vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/CMO_0000745 percent change in developed blood pressure http://purl.obolibrary.org/obo/CMO_0000744 change in developed blood pressure http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/CMO_0000751 percent change in left ventricular developed pressure http://purl.obolibrary.org/obo/CMO_0000752 change in left ventricular developed pressure http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/CMO_0000607 absolute change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/CMO_0000747 percent change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000746 change in systolic blood pressure http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/CMO_0000754 percent change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000749 percent change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000750 absolute change in arterial blood flow rate http://purl.obolibrary.org/obo/CMO_0000748 change in arterial blood flow rate http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001019 absolute change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000753 change in left ventricular systolic blood pressure http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/CMO_0000539 heart left ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000776 heart left ventricle weight http://purl.obolibrary.org/obo/CMO_0000656 heart right ventricle dry weight http://purl.obolibrary.org/obo/CMO_0000777 heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/CMO_0001132 kidney tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/CMO_0000679 infarction measurement http://purl.obolibrary.org/obo/CMO_0000860 organ non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001130 kidney lesion measurement http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/CMO_0000906 kidney measurement http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/CMO_0000982 heart left ventricular end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000983 heart left ventricle end-systolic diameter http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001192 heart left ventricle end-systolic area http://purl.obolibrary.org/obo/CMO_0000951 heart left ventricle morphological measurement http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001125 calculated heart right ventricle morphological measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://purl.obolibrary.org/obo/CMO_0000962 blood vessel lesion measurement http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/CMO_0000968 artery diameter http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/CMO_0000978 blood vessel wall thickness to blood vessel inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000977 calculated blood vessel lesion measurement http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000965 calculated blood vessel wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/CMO_0000966 artery wall thickness http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000237 aorta wall thickness http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/CMO_0001412 artery tunica media area http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/CMO_0000979 artery wall thickness to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/CMO_0001413 artery tunica media width http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002303 artery wall thickness to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002790 artery tunica media width to artery inner diameter ratio http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/CMO_0000972 artery outer diameter http://purl.obolibrary.org/obo/CMO_0000970 blood vessel outer diameter http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0000980 calculated artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0000973 calculated artery diameter measurement http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0000971 artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/CMO_0000974 artery measurement http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/CMO_0001913 artery internal elastic lamina non-tumorous lesion count http://purl.obolibrary.org/obo/CMO_0000975 artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/CMO_0001414 artery neointimal hyperplastic lesion area http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001417 lesioned artery residual lumen area http://purl.obolibrary.org/obo/CMO_0000976 calculated artery lesion measurement http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002541 left ventricular isovolumetric contraction time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/CMO_0002993 heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio http://purl.obolibrary.org/obo/CMO_0002992 calculated left ventricular end-diastolic blood pressure measurement http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/CMO_0000985 heart left ventricle fractional shortening http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000986 heart left ventricle anterior wall thickness http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/CMO_0000987 heart ventricle septal wall thickness http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/CMO_0000989 heart left ventricle end-diastolic relative wall thickness http://purl.obolibrary.org/obo/CMO_0000988 heart left ventricle relative wall thickness http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000996 heart right ventricle anterior wall thickness http://purl.obolibrary.org/obo/CMO_0000990 heart anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/CMO_0000991 calculated heart wall thickness measurement http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/CMO_0000993 heart ventricle relative wall thickness http://purl.obolibrary.org/obo/CMO_0000992 heart relative wall thickness http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001001 count of superficial glomeruli directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/CMO_0001002 count of superficial glomeruli not directly contacting the kidney surface http://purl.obolibrary.org/obo/CMO_0001000 superficial glomerulus count http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0000608 absolute change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001017 percent change in diastolic blood pressure http://purl.obolibrary.org/obo/CMO_0001016 change in diastolic blood pressure http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/CMO_0000108 heart right ventricle weight to left ventricle weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0000530 heart left ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002497 heart left ventricle weight to heart left ventricle end-diastolic area ratio http://purl.obolibrary.org/obo/CMO_0001191 heart left ventricle end-diastolic area http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002787 heart left ventricle weight to tibia length ratio http://purl.obolibrary.org/obo/CMO_0001123 calculated heart left ventricle weight http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/CMO_0000914 heart right ventricle weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000915 heart right ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001124 calculated heart right ventricle weight http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001650 heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/CMO_0001127 anterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001128 middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001129 posterior cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001126 cerebral artery inner diameter http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/CMO_0001188 calculated cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0001131 kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001269 kidney sclerotic glomeruli count to total glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001175 kidney glomerulosclerotic lesion count http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001967 kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0001966 kidney glomerulosclerotic lesion diameter http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/CMO_0002139 kidney crescentic glomeruli count to kidney normal glomeruli count ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0002784 kidney sclerotic glomerular volume to total kidney glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0001134 calculated kidney glomerulosclerotic lesion measurement http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002960 mesangial injury score http://purl.obolibrary.org/obo/CMO_0001135 index of glomerular damage http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001166 kidney glomerulus diameter http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002247 kidney glomerulus volume http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/CMO_0002954 number of podocytes per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002959 number of nucleated cells per kidney glomerulus http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001168 absolute change in renal blood flow rate http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001239 ratio of change in renal blood flow to change in renal perfusion pressure http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001897 ratio of change in renal blood flow rate to kidney weight http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/CMO_0001955 renal blood flow rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0001167 calculated renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002166 kidney renin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002235 kidney glutathione level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001181 renal cortex protein measurement http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002984 mean proximal tubular hydraulic pressure http://purl.obolibrary.org/obo/CMO_0001178 renal cortex measurement http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/CMO_0001180 renal medulla protein measurement http://purl.obolibrary.org/obo/CMO_0001179 renal medulla measurement http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/CMO_0001183 calculated renal cortex protein composition measurement http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002237 kidney protein carbonyl level to total protein level ratio http://purl.obolibrary.org/obo/CMO_0001182 calculated kidney protein composition measurement http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/CMO_0001186 renal cortex TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001185 kidney TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001187 renal medulla TRPV4 protein level to beta-actin protein level ratio http://purl.obolibrary.org/obo/CMO_0001184 calculated renal medulla protein composition measurement http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001190 percent change in middle cerebral artery inner diameter http://purl.obolibrary.org/obo/CMO_0001189 calculated middle cerebral artery inner diameter measurement http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001133 kidney glomerulosclerotic lesion measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/CMO_0001254 kidney fibrotic lesion measurement http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/CMO_0001256 kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0001255 kidney fibrotic lesion size measurement http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/CMO_0001258 kidney fibrotic lesion area to total kidney area ratio http://purl.obolibrary.org/obo/CMO_0001257 calculated kidney fibrotic lesion area measurement http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://purl.obolibrary.org/obo/CMO_0001316 total heart ventricle weight http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/CMO_0001318 total heart ventricle weight as a percentage of body weight http://purl.obolibrary.org/obo/CMO_0001317 calculated total heart ventricle weight http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001409 artery lumen area http://purl.obolibrary.org/obo/CMO_0001408 artery lumen measurement http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001411 artery tunica media measurement http://purl.obolibrary.org/obo/CMO_0001410 artery wall measurement http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001416 artery neointimal hyperplastic lesion area to total wall area ratio http://purl.obolibrary.org/obo/CMO_0001415 calculated artery neointimal hyperplastic lesion area http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/CMO_0001474 aorta measurement http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000076 aorta weight http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001641 aorta wall morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/CMO_0002720 aorta length http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://purl.obolibrary.org/obo/CMO_0001475 aorta morphological measurement http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/CMO_0001477 arterial blood flow velocity http://purl.obolibrary.org/obo/CMO_0001476 blood flow velocity http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/CMO_0001479 aortic blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001481 peak aortic velocity http://purl.obolibrary.org/obo/CMO_0001478 aortic blood flow velocity http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002551 right ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0001482 heart isovolumetric relaxation time http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/CMO_0000335 left atrium weight http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000337 left atrium volume http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001485 heart left atrium end-systolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/CMO_0001486 heart left atrium end-diastolic diameter http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001483 heart left atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0000336 right atrium weight http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/CMO_0000338 right atrium volume http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/CMO_0001484 heart right atrium morphological measurement http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/CMO_0001488 heart left atrium fractional shortening http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002950 heart left atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0001487 calculated heart left atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/CMO_0000371 blood lymphocyte count to total leukocyte count ratio http://purl.obolibrary.org/obo/CMO_0002349 blood differential leukocyte count to total leukocyte count ratio http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0001546 myocardial clearance rate http://purl.obolibrary.org/obo/CMO_0001544 myocardium measurement http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001640 blood vessel smooth muscle measurement http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/CMO_0001642 aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001643 blood vessel smooth muscle cell count http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/CMO_0001644 calculated blood vessel smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/CMO_0001646 aorta smooth muscle cell count per unit vessel length http://purl.obolibrary.org/obo/CMO_0001645 calculated aorta smooth muscle cell count http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/CMO_0001649 heart left ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001648 calculated heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/CMO_0001652 heart right ventricle deoxyribonucleic acid content to body weight ratio http://purl.obolibrary.org/obo/CMO_0001651 calculated heart right ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0001656 receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio http://purl.obolibrary.org/obo/CMO_0001655 calculated blood vessel maximum contractile force measurement http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/CMO_0001657 concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/CMO_0001658 logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/CMO_0001746 maximum rate of negative change in left ventricular blood pressure http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/CMO_0001747 time constant of left ventricular pressure decay http://purl.obolibrary.org/obo/CMO_0001744 calculated left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002236 kidney malondialdehyde level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0002238 kidney platinum level http://purl.obolibrary.org/obo/CMO_0001852 kidney molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0001854 kidney 20-HETE level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002246 kidney lipid peroxide level http://purl.obolibrary.org/obo/CMO_0001853 kidney lipid composition measurement http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000027 white blood cell count http://purl.obolibrary.org/obo/CMO_0002341 white blood cell measurement http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001898 renal vascular resistance http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/CMO_0002972 efferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002973 afferent arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001900 absolute change in renal vascular resistance http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/CMO_0001901 slope of contraction-induced renal vascular resistance curve http://purl.obolibrary.org/obo/CMO_0001899 calculated renal vascular resistance http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002974 total arteriolar resistance http://purl.obolibrary.org/obo/CMO_0002971 arteriolar resistance http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/CMO_0001914 renal plasma flow http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/28510 GLIS3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001915 ratio of the effective renal plasma flow to the weight of both kidneys http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001916 effective renal plasma flow http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002782 renal plasma flow to body weight ratio http://purl.obolibrary.org/obo/CMO_0001917 calculated renal plasma flow http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002968 glomerular capillary plasma flow rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000179 blood vessel diameter http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/28648 DIS3L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000964 blood vessel wall thickness http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/CMO_0001998 aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002002 aorta wall extracellular elastin dry weight to aorta wall dry weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/CMO_0002003 aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/CMO_0002565 aorta wall extracellular elastin dry weight to aorta length ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002037 maximum change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/CMO_0002036 change in heart rate to change in mean arterial blood pressure ratio http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/CMO_0002048 blood sterol level http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/CMO_0002281 serum cholesterol level http://purl.obolibrary.org/obo/CMO_0002280 blood cholesterol level http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002577 tissue protein/peptide composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/CMO_0000534 absolute change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0000742 percent change in heart rate http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001231 change in heart rate to change in intracerebroventricular sodium concentration ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/CMO_0002162 absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/CMO_0002994 rate-pressure product http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0001647 heart left ventricle deoxyribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002165 heart left ventricle natriuretic peptide A level http://purl.obolibrary.org/obo/CMO_0002164 heart left ventricle molecular composition measurement http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/CMO_0002222 kidney protein activity measurement http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002224 kidney catalase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002225 kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/CMO_0002226 kidney glutathione reductase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/CMO_0002227 kidney glutathione peroxidase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002228 kidney glutathione-S-transferase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002229 kidney superoxide dismutase activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002230 kidney paraoxonase1 activity to total protein level ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002231 kidney glutathione peroxidase activity to glutathione reductase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002232 kidney superoxide dismutase to catalase activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002233 kidney superoxide dismutase to glutathione peroxidase ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002234 kidney superoxide dismutase to paraoxonase1 activity ratio http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002745 kidney angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/CMO_0002746 kidney angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002223 kidney enzyme activity measurement http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/CMO_0002379 ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/CMO_0002980 ratio of the area occupied by cysts to the total area of the kidney http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002460 potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline http://purl.obolibrary.org/obo/CMO_0002461 potassium chloride response/sensitivity measurement http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/CMO_0002462 concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/CMO_0002464 concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002463 logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/CMO_0002465 logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000180 ejection fraction http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/CMO_0002503 E wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002504 E wave deceleration time http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002505 E wave deceleration rate http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002535 number of capillaries per skeletal muscle fiber http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002969 glomerular capillary hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002986 glomerular transcapillary hydraulic pressure gradient http://purl.obolibrary.org/obo/CMO_0002536 capillary measurement http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002540 left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://purl.obolibrary.org/obo/CMO_0002556 myocardial performance index http://purl.obolibrary.org/obo/CMO_0002555 left ventricular ejection time http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002553 heart rate-corrected left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/CMO_0002552 calculated left ventricular isovolumetric relaxation time http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002557 cardiovascular disease severity measurement http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002560 aortic rupture severity measurement http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002564 arterial internal elastic lamina rupture composite score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002566 patent ductus arteriosus score http://purl.obolibrary.org/obo/CMO_0002559 arterial disease severity measurement http://purl.obolibrary.org/obo/CMO_0002562 number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/CMO_0002563 number of ruptures of the internal elastic lamina of the renal arteries http://purl.obolibrary.org/obo/CMO_0002561 number of ruptures of arterial internal elastic lamina http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0001999 aorta wall extracellular elastin level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002000 aorta wall extracellular collagen level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002004 aorta wall intracellular protein level http://purl.obolibrary.org/obo/CMO_0002579 aorta wall protein/peptide composition measurement http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002591 blood pressure time series first order moving average coefficient http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002592 blood pressure time series fractal parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/CMO_0002595 blood pressure time series linear term first order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002596 blood pressure time series linear term second order parameter http://purl.obolibrary.org/obo/CMO_0002589 blood pressure time series calculated parameter http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/CMO_0002593 blood pressure time series experimental set point of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002594 blood pressure time series average exponential scaling factor of the baroreceptor response http://purl.obolibrary.org/obo/CMO_0002590 blood pressure time series baroreceptor response calculation parameter http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/CMO_0000119 blood lipoprotein level http://purl.obolibrary.org/obo/CMO_0002690 blood lipoprotein measurement http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0000052 blood high density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0000053 blood low density lipoprotein cholesterol level http://purl.obolibrary.org/obo/CMO_0002696 blood lipoprotein cholesterol level http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/OMRSE_00000139 surgeon role http://purl.obolibrary.org/obo/OMRSE_00000013 physician role http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010226 Antibody Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000175 Cytokine Receptor Superfamily Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000082 Immunologic Factors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000254 Immunologic and Biological Factors [MoA] http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010279 Interleukin 2 Receptor Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010278 Interleukin 2 Receptor Interactions [MoA] http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000199 Cholinergic Nicotinic Receptor Interactions [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000253 Polycationic Channel Interactions [MoA] http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175368 Cholinergic Interactions [MoA] http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/CMO_0002722 aorta weight to aorta length to body weight ratio http://purl.obolibrary.org/obo/CMO_0002721 calculated aorta morphological measurement http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/UBERON_0022288 surface of eyeball http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000225 Who owns the 2nd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/OPMI_0000226 Who owns the 3rd email address http://purl.obolibrary.org/obo/OPMI_0000221 Who owns email address http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/OPMI_0000228 physician specialty information http://purl.obolibrary.org/obo/OPMI_0000227 physician information http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000236 nephrology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://purl.obolibrary.org/obo/OPMI_0000237 endocrinology care http://purl.obolibrary.org/obo/OPMI_0000232 secondary care http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/OPMI_0000243 What street name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000245 What state http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000247 What street number and name http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000242 address question http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000255 Whether diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000256 Whether AKI percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000257 Whether AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000258 Whether biopsy http://purl.obolibrary.org/obo/OPMI_0000246 What Zip code http://purl.obolibrary.org/obo/OPMI_0000260 What postal code http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000059 biopsy safety checklist form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000265 pathology CRF http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/OPMI_0000068 adverse event entry form http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000270 Whether patient signed HIPPA release form http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/OPMI_0000271 When HIPAA release form signed http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/OPMI_0000272 Whether scanned HIPAA release form uploaded http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/OPMI_0000277 AKi percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000280 diabetic nephropathy resisters percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000276 percutaneous biopsy http://purl.obolibrary.org/obo/OPMI_0000279 AKI open biopsy http://purl.obolibrary.org/obo/OPMI_0000278 open biopsy http://purl.obolibrary.org/obo/OPMI_0000339 excellent health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000340 very good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/OPMI_0000341 good health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/OPMI_0000342 fair health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/OPMI_0000343 poor health status http://purl.obolibrary.org/obo/OPMI_0000281 health status http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/OPMI_0000283 Whether diseased http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/OPMI_0004485 Whether acute kidney injury http://purl.obolibrary.org/obo/OPMI_0000284 Whether kidney diseased http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000603 preliminary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000613 admission diagnosis http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/OPMI_0000604 preliminary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/OPMI_0000607 primary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/OPMI_0000608 primary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000610 secondary admission diagnosis http://purl.obolibrary.org/obo/OPMI_0000609 secondary diagnosis http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000611 secondary discharge diagnosis http://purl.obolibrary.org/obo/OPMI_0000616 discharge diagnosis http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000612 secondary referral diagnosis http://purl.obolibrary.org/obo/OPMI_0000620 referral diagnosis http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CHEBI_47882 cyclic polypyrrole http://purl.obolibrary.org/obo/CHEBI_38077 polypyrrole http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_35136 iron protein http://purl.obolibrary.org/obo/CHEBI_35134 metalloprotein http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/CHEBI_5386 globin http://purl.obolibrary.org/obo/CHEBI_35137 hemoprotein http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin http://purl.obolibrary.org/obo/CHEBI_5386 globin http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/OMRSE_00000016 person health care provider role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OMRSE_00000085 socio-legal human social role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/OMRSE_00000103 US Census unemployed role http://purl.obolibrary.org/obo/OMRSE_00000001 human social role http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/OMRSE_00000003 party to a legal proceeding http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/OMRSE_00000006 party to a power of attorney http://purl.obolibrary.org/obo/OMRSE_00000002 party to a legal entity http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OMRSE_00000005 party to a marriage contract http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/OMRSE_00000096 party to an insurance policy http://purl.obolibrary.org/obo/OMRSE_00000004 party to a legal agreement http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/OMRSE_00000025 organization social role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/OMRSE_00000015 health care provider organization role http://purl.obolibrary.org/obo/OMRSE_00000027 organization health care role http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/OMRSE_00000059 nursery school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/OMRSE_00000060 primary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OMRSE_00000065 secondary school role http://purl.obolibrary.org/obo/OMRSE_00000055 school role http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/OMRSE_00000500 employment data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OMRSE_00000501 income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000502 government assistance health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000503 health care plan data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OMRSE_00000504 government assistance income data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000505 WIC data http://purl.obolibrary.org/obo/OMRSE_00000506 socio-economic data http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_1980486 Puumala orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCBITaxon_1980490 Seoul orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C128938 Black http://purl.obolibrary.org/obo/NCIT_C16352 Black or African American http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/MONDO_0030077 vertebral, cardiac, renal, and limb defects syndrome 3 http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000318 pregnancy test positive http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/OGMS_0000018 laboratory finding http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/SO_0000418 signal_peptide http://purl.obolibrary.org/obo/PR_000021935 immature protein part http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/ENVO_00000000 geographic feature http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/NCBITaxon_4930 Saccharomyces http://purl.obolibrary.org/obo/NCBITaxon_4893 Saccharomycetaceae http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/NCBITaxon_1239 Firmicutes http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinobacteria http://purl.obolibrary.org/obo/NCBITaxon_1783272 Terrabacteria group http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/NCBITaxon_3378 Gnetales http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/NCBITaxon_147554 Schizosaccharomycetes http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_1445966 Gnetidae http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/NCBITaxon_4894 Schizosaccharomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_34346 Schizosaccharomycetales http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_3176 Zygnematales http://purl.obolibrary.org/obo/NCBITaxon_2684882 Zygnematophycidae http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://identifiers.org/hgnc/2033 CLDN10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://identifiers.org/hgnc/4796 HAAO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/SO_0001217 protein_coding_gene http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://identifiers.org/hgnc/10023 RIT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://identifiers.org/hgnc/103 CNNM2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/1037 CFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://identifiers.org/hgnc/10524 SALL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://identifiers.org/hgnc/10600 SCNN1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://identifiers.org/hgnc/10602 SCNN1G http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://identifiers.org/hgnc/10671 SDCCAG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://identifiers.org/hgnc/1078 BMPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://identifiers.org/hgnc/10891 SIX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://identifiers.org/hgnc/10910 SLC12A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/10912 SLC12A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/1097 BRAF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://identifiers.org/hgnc/11006 SLC2A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://identifiers.org/hgnc/1101 BRCA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://identifiers.org/hgnc/11019 SLC34A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/11021 SLC35A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://identifiers.org/hgnc/11027 SLC4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://identifiers.org/hgnc/11030 SLC4A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://identifiers.org/hgnc/11037 SLC5A2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://identifiers.org/hgnc/11075 SLC9A3R1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://identifiers.org/hgnc/11102 SMARCAL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://identifiers.org/hgnc/11187 SOS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://identifiers.org/hgnc/11188 SOS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://identifiers.org/hgnc/11194 SOX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://identifiers.org/hgnc/11595 TBX18 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://identifiers.org/hgnc/1161 CEP55 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://identifiers.org/hgnc/11630 HNF1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://identifiers.org/hgnc/11752 TFE3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://identifiers.org/hgnc/11784 THBD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://identifiers.org/hgnc/11998 TP53 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/12269 TREX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://identifiers.org/hgnc/12338 TRPC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://identifiers.org/hgnc/12362 TSC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://identifiers.org/hgnc/12373 TSHR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://identifiers.org/hgnc/12559 UMOD http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://identifiers.org/hgnc/12712 VPS33B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://identifiers.org/hgnc/12796 WT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://identifiers.org/hgnc/12805 XDH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://identifiers.org/hgnc/12829 XRCC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://identifiers.org/hgnc/1318 C3 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13210 ARL6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://identifiers.org/hgnc/13387 NEK8 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/13394 NPHS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/13446 SLC2A9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://identifiers.org/hgnc/13556 IFT122 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://identifiers.org/hgnc/1366 ADAMTS13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://identifiers.org/hgnc/1373 CA2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://identifiers.org/hgnc/14082 ANLN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://identifiers.org/hgnc/14540 WNK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://identifiers.org/hgnc/14544 WNK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://identifiers.org/hgnc/14604 AMN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/14938 PIGT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://identifiers.org/hgnc/1527 CAV1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://identifiers.org/hgnc/15573 SETBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://identifiers.org/hgnc/15626 FCGR2C http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/15901 IFT52 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://identifiers.org/hgnc/15979 TP63 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://identifiers.org/hgnc/1630 CD151 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://identifiers.org/hgnc/16353 MAGED2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://identifiers.org/hgnc/16380 TRIM32 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://identifiers.org/hgnc/16400 NLRP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://identifiers.org/hgnc/16512 BSND http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://identifiers.org/hgnc/166 ACTN4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://identifiers.org/hgnc/1665 SCARB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://identifiers.org/hgnc/16762 ZNF423 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/17042 PUF60 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/17175 PLCE1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://identifiers.org/hgnc/17697 SARS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://identifiers.org/hgnc/17861 TRAF3IP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://identifiers.org/hgnc/17870 INVS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://identifiers.org/hgnc/17966 CEP83 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://identifiers.org/hgnc/17989 SLC22A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://identifiers.org/hgnc/17995 TRPM6 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18141 DCDC2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://identifiers.org/hgnc/18234 MOCOS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://identifiers.org/hgnc/18276 SEC61A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/18340 WDR19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://identifiers.org/hgnc/18374 HPSE2 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1838 CECR http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/1857 CENPF http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://identifiers.org/hgnc/18626 IFT27 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://identifiers.org/hgnc/18658 NUP205 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://identifiers.org/hgnc/18688 CRB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://identifiers.org/hgnc/18758 BBS7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://identifiers.org/hgnc/18871 MMAA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/19012 CORIN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://identifiers.org/hgnc/19041 COQ8B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://identifiers.org/hgnc/19104 NPHP4 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/19181 KIF14 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/19331 MMAB http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://identifiers.org/hgnc/1952 CHRM3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://identifiers.org/hgnc/19687 EIF2AK4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://identifiers.org/hgnc/19960 KIAA0586 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://identifiers.org/hgnc/20087 TTC8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2023 CLCN5 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://identifiers.org/hgnc/20233 COQ6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://identifiers.org/hgnc/2027 CLCNKB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/20347 VIPAS39 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://identifiers.org/hgnc/2037 CLDN16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://identifiers.org/hgnc/2040 CLDN19 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://identifiers.org/hgnc/20473 BRIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://identifiers.org/hgnc/20748 FANCL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://identifiers.org/hgnc/20889 LRIG2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://identifiers.org/hgnc/21144 DSE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://identifiers.org/hgnc/21285 ADCY10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://identifiers.org/hgnc/21424 IFT74 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://identifiers.org/hgnc/21694 POU6F2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://identifiers.org/hgnc/21862 DYNC2I1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://identifiers.org/hgnc/2202 COL4A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2204 COL4A3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://identifiers.org/hgnc/2207 COL4A5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2230 COPA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/22965 PEX26 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://identifiers.org/hgnc/23015 FAM20A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://identifiers.org/hgnc/23094 SLC16A12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/23161 ALG8 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://identifiers.org/hgnc/23399 FREM1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://identifiers.org/hgnc/2348 CREBBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/23508 STOX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://identifiers.org/hgnc/23791 INF2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://identifiers.org/hgnc/23845 SLX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/24123 B9D1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/24464 CHST14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/24595 DYNC2LI1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://identifiers.org/hgnc/24668 CFHR5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://identifiers.org/hgnc/25009 UBE2T http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://identifiers.org/hgnc/25018 TMEM216 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/25155 HOGA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://identifiers.org/hgnc/2518 CTNS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://identifiers.org/hgnc/2548 CUBN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://identifiers.org/hgnc/2553 CUL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/25568 FANCI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://identifiers.org/hgnc/25660 TTC21B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2567 OFD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://identifiers.org/hgnc/25774 TCTN2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://identifiers.org/hgnc/2591 CYP11B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2602 CYP24A1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/26144 PALB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://identifiers.org/hgnc/26291 BBS10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/26648 BBS12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://identifiers.org/hgnc/26690 CEP120 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/26724 ANKS6 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/27310 FLCN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://identifiers.org/hgnc/27960 SLC6A19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/28027 WDPCP http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/28052 XPNPEP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/28093 BBIP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/28296 DYNC2I2 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/28396 TMEM67 http://purl.obolibrary.org/obo/SO_0000704 gene 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Dakota http://identifiers.org/hgnc/2852 DGKE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://identifiers.org/hgnc/2860 DHCR7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://identifiers.org/hgnc/28636 B9D2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary 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http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/28949 IQCB1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://identifiers.org/hgnc/28958 NUP93 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://identifiers.org/hgnc/29021 CEP290 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/BFO_0000055 realizes http://identifiers.org/hgnc/29043 DSTYK http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://identifiers.org/hgnc/29077 IFT140 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/29168 RPGRIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/29170 FAN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/29182 CEP164 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/29250 WDR35 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://identifiers.org/hgnc/29253 CC2D2A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://identifiers.org/hgnc/29262 IFT80 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29300 KANK2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://identifiers.org/hgnc/29450 GLIS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://identifiers.org/hgnc/29536 MAPKBP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/2959 DNASE1L3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/BFO_0000108 exists at http://identifiers.org/hgnc/29669 IFT43 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/29914 NUP107 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/30000 BBS9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://identifiers.org/hgnc/30391 IFT172 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/3229 EGF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/3247 EHHADH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3327 ELN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/3334 EMP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/3373 EP300 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/341 AGXT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3436 ERCC4 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/3579 FAH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://identifiers.org/hgnc/3582 FANCA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3583 FANCB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3584 FANCC http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3585 FANCD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3586 FANCE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://identifiers.org/hgnc/3587 FANCF http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/3588 FANCG http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3677 FGF20 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/3690 FGFR3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://identifiers.org/hgnc/3705 FIBP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://identifiers.org/hgnc/37234 TMEM231 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/3778 FN1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4026 FXYD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4056 G6PC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4061 SLC37A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4116 GALE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4118 GALK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4135 GALT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4138 GANAB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/417 ALDOB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4172 GATA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4214 GDF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://identifiers.org/hgnc/428 ALMS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4296 GLA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4319 GLI3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://identifiers.org/hgnc/4392 GNAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4451 GPC3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://identifiers.org/hgnc/4570 GRHPR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/4713 H19 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://identifiers.org/hgnc/4827 HBB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/4883 CFH http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/5024 HNF4A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/5157 HPRT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/5209 HSD11B2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/5394 CFI http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://identifiers.org/hgnc/57 ABCC6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://identifiers.org/hgnc/613 APOE http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/6139 ITGA3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://identifiers.org/hgnc/6188 JAG1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/6255 KCNJ1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://identifiers.org/hgnc/6256 KCNJ10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/626 APRT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/6278 KCNK3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://identifiers.org/hgnc/634 AQP2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/6354 KLHL3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/6407 KRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/6408 MAFB http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://identifiers.org/hgnc/6469 KYNU http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://identifiers.org/hgnc/6487 LAMB2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://identifiers.org/hgnc/6518 LBR http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://identifiers.org/hgnc/6522 LCAT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/6654 LMX1B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/6741 LZTFL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://identifiers.org/hgnc/6742 LZTR1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://identifiers.org/hgnc/6764 MAD2L2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/6774 SMAD9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://identifiers.org/hgnc/678 ARHGDIA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://identifiers.org/hgnc/6953 CD46 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/6998 MEFV http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/7108 MKKS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/7121 MKS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/7154 MME http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://identifiers.org/hgnc/7468 MTR http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/7508 MUC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://identifiers.org/hgnc/7526 MMUT http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://identifiers.org/hgnc/7579 MYH9 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://identifiers.org/hgnc/7599 MYO1E http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://identifiers.org/hgnc/7744 NEK1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://identifiers.org/hgnc/7758 NEU1 http://purl.obolibrary.org/obo/SO_0000704 gene http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://identifiers.org/hgnc/7765 NF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://identifiers.org/hgnc/7865 NODAL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://identifiers.org/hgnc/7882 NOTCH2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://identifiers.org/hgnc/7905 NPHP1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://identifiers.org/hgnc/7907 NPHP3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://identifiers.org/hgnc/7908 NPHS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/7979 NR3C2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://identifiers.org/hgnc/7989 NRAS http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/8108 OCRL http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/853 ATP6V1B1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://identifiers.org/hgnc/8616 PAX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/8618 PAX4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/866 ATP6V0A4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/870 ATP7B http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8778 PDE3A http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/8850 PEX1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://identifiers.org/hgnc/8851 PEX10 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8854 PEX12 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/8855 PEX13 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://identifiers.org/hgnc/8856 PEX14 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8857 PEX16 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BFO_0000001 entity http://identifiers.org/hgnc/8858 PEX3 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://identifiers.org/hgnc/8859 PEX6 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://identifiers.org/hgnc/8860 PEX7 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://identifiers.org/hgnc/894 AVP http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/8941 SERPINA1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/8957 PIGA http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://identifiers.org/hgnc/897 AVPR2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/9008 PKD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/9009 PKD2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://identifiers.org/hgnc/9016 PKHD1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://identifiers.org/hgnc/9462 PRPS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/9588 PTEN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/9644 PTPN11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://identifiers.org/hgnc/966 BBS1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://identifiers.org/hgnc/967 BBS2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://identifiers.org/hgnc/9678 PTPRO http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://identifiers.org/hgnc/969 BBS4 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://identifiers.org/hgnc/970 BBS5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://identifiers.org/hgnc/9713 PEX19 http://purl.obolibrary.org/obo/SO_0000704 gene http://identifiers.org/hgnc/9717 PEX2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://identifiers.org/hgnc/9719 PEX5 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/9817 RAD51 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://identifiers.org/hgnc/9820 RAD51C http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://identifiers.org/hgnc/9829 RAF1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://identifiers.org/hgnc/9958 REN http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://identifiers.org/hgnc/9966 REST http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://identifiers.org/hgnc/17748 DACT1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/29205 ERGIC1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/10817 SGPL1 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://identifiers.org/hgnc/14889 DNAJB11 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://identifiers.org/hgnc/18957 MAGI2 http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://identifiers.org/hgnc/26551 DZIP1L http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/OPMI_0000386 GSM identiifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000387 ImmPort biosample identifier http://purl.obolibrary.org/obo/OPMI_0000385 biosample identifier http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000544 primary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000545 referral diagnosis status http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000555 primary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000538 discharge diagnosis status http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000536 confirmed diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/OPMI_0000540 preliminary diagnosis status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/OPMI_0000551 condition to be diagnosed by procedure status http://purl.obolibrary.org/obo/OPMI_0000533 medical condition status http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/OPMI_0000547 secondary discharge diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000559 secondary admission diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/OPMI_0000548 secondary referral diagnosis status http://purl.obolibrary.org/obo/OPMI_0000546 secondary diagnosis status http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/CARO_0000003 connected anatomical structure http://purl.obolibrary.org/obo/CARO_0000006 material anatomical entity http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCBITaxon_142796 Eumycetozoa http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCBITaxon_33083 Dictyostelia http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0021135 rare or common http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology http://purl.obolibrary.org/obo/MONDO_0021125 disease characteristic http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/ENVO_00002004 physical object of mesoscopic geological size http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/ENVO_00003075 anthropogenic abiotic mesoscopic feature http://purl.obolibrary.org/obo/ENVO_01000010 abiotic mesoscopic physical object http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/NCBITaxon_3372 Gnetopsida http://purl.obolibrary.org/obo/NCBITaxon_1437180 Acrogymnospermae http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000602 preliminary diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000614 confirmed diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000175 BMI greater than 40 kg per m2 http://purl.obolibrary.org/obo/NCIT_C138901 Body Mass Index Finding http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0019936 rare otorhinolaryngological malformation http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/OPMI_0000177 Whether unwilling to receive blood transfusion http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/OPMI_0004505 Whether diabetes during pregnancy http://purl.obolibrary.org/obo/OPMI_0004492 Whether diabetes http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/OPMI_0000389 contact of scientific queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000393 contact for public queries http://purl.obolibrary.org/obo/OPMI_0000383 contact person http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CARO_0001001 neuron projection bundle http://purl.obolibrary.org/obo/CARO_0001000 multi-cell-part structure http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CARO_0000000 anatomical entity http://purl.obolibrary.org/obo/CARO_0030000 biological entity http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCBITaxon_9605 Homo http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCBITaxon_314293 Simiiformes http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/NCBITaxon_376913 Haplorrhini http://purl.obolibrary.org/obo/NCBITaxon_9443 Primates http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_314295 Hominoidea http://purl.obolibrary.org/obo/NCBITaxon_9526 Catarrhini http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCBITaxon_207598 Homininae http://purl.obolibrary.org/obo/NCBITaxon_9604 Hominidae http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175703 Competitive Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175718 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000651 Candidiasis, Chronic Mucocutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000652 Candidiasis, Cutaneous [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000654 Candidiasis, Vulvovaginal [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001921 Magnesium Deficiency [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000650 Candidiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002075 Mycoses [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000945 Dermatomycoses [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002764 Skin Diseases, Infectious [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002196 Nutrition Disorders [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003524 AIDS-Related Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008327 Carbohydrate Metabolism Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008571 Decreased Cytokine Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008663 Decreased Immunologically Active Molecule Activity [PE] http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009386 Increased Loop of Henle Mg++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009877 Striated Muscle Anabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009876 Striated Muscle Metabolic Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000149693 NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000145961 NYSTATIN http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000283 Acidosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000355 Alkalosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000282 Acid-Base Imbalance [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000993 DNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001679 Infant, Premature, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001678 Infant, Newborn, Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002650 RNA Virus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008178 Phosphonic Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007696 Phosphorus Acids [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011457 Peptide Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007940 Terpenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008114 Acetic Acids [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011327 Phytol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008216 Diterpenes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009382 Increased Loop of Henle Cl- Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008867 Decreased Respiratory Secretion Viscosity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009837 Respiratory Secretion Viscosity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008841 Decreased Protein Synthesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009894 Translation Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000909 Deficiency Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011099 Malnutrition [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011162 beta-Lactams [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011175 Antibodies [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020040 Polysaccharide Metabolism Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000154189 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029088 [AM700] ANTIFUNGALS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029074 [AM000] ANTIMICROBIALS http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029204 [IR200] PERITONEAL DIALYSIS SOLUTIONS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000029202 [IR000] IRRIGATION/DIALYSIS SOLUTIONS http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009252 Increased Coagulation Factor Activity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCBITaxon_1891762 Human polyomavirus 1 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002738 heart protein activity measurement http://purl.obolibrary.org/obo/CMO_0002740 heart angiotensin I converting enzyme 2 activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/CMO_0002741 heart angiotensin I converting enzyme activity level http://purl.obolibrary.org/obo/CMO_0002739 heart enzyme activity level http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/CMO_0002760 cardiac muscle fiber diameter http://purl.obolibrary.org/obo/CMO_0002759 cardiac muscle fiber morphological measurement http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/OPMI_0000449 disease biomarker role http://purl.obolibrary.org/obo/OPMI_0000441 biomarker role http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000442 immune signature role http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OPMI_0000444 inflammatory cytokine signature role http://purl.obolibrary.org/obo/OPMI_0000443 cytokine signature role http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OPMI_0000452 molecular biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/OPMI_0000454 imaging biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/OPMI_0000445 biomarker http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000446 immune biomarker http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/OPMI_0000448 inflammatory cytokine biomarker http://purl.obolibrary.org/obo/OPMI_0000447 cytokine biomarker http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000464 cancer marker http://purl.obolibrary.org/obo/OPMI_0000450 disease biomarker http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000227 Cholinergic Nicotinic Antagonists [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175370 Cholinergic Antagonists [MoA] http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003223 Dry Eye Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001774 Lacrimal Apparatus Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002927 Thoracic Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003384 Lentivirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002623 Retroviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003211 Sexually Transmitted Diseases, Viral [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002724 Sexually Transmitted Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003302 HIV Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002526 Psoriasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003577 Skin Diseases, Papulosquamous [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007207 Sodium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007844 Sodium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007730 Sterols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008223 Immunoproteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006335 Magnesium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008004 Metals, Light [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006512 Calcium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008171 Bicyclo Compounds [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008149 Bridged Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007759 Cholestenes [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008187 Cholestanes [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008221 Immunoglobulin Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007920 Immunoglobulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008244 Serum Globulins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008250 Monosaccharides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008294 Alveolar Surface Tension Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008293 Alveolar Surface Tension Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008362 Coagulation Factor Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008363 Coagulation Factor Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009344 Increased Glycogenesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009064 Glycogen Metabolism Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009067 Hematological Cell Quantity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009068 Hematopoiesis Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001750 Kidney Failure, Chronic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000171643 Renal Insufficiency, Chronic [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009381 Increased Loop of Henle Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001746 Kidney Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001749 Kidney Failure, Acute [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000182224 Acute Kidney Injury [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175358 Diuresis Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175366 Increased Diuresis at Loop of Henle [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175359 Increased Diuresis [PE] http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002789 E/A wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000136 M.D. completion education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/OPMI_0000137 Pharmacy complete education level http://purl.obolibrary.org/obo/OPMI_0000135 professional doctorate degree education level http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://purl.obolibrary.org/obo/OPMI_0000158 private health insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/OPMI_0000159 worker compensation insurance plan http://purl.obolibrary.org/obo/OPMI_0000155 health insurance plan http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/MONDO_0015335 orofacial clefting syndrome http://purl.obolibrary.org/obo/MONDO_0015501 syndrome or malformation associated with head and neck malformations http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0018787 genetic cerebral small vessel disease http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/MONDO_0020787 hypomagnesemia, seizures, and intellectual disability 1 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/MONDO_0017369 autoinflammatory syndrome with immune deficiency http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency http://purl.obolibrary.org/obo/MONDO_0015136 immunodeficiency due to a genetic complement cascade protein anomaly http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/MONDO_0015495 otomandibular dysplasia associated with monogenic syndromes http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0015890 rare disorder with congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/MONDO_0022572 bilateral renal agenesis dominant type http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis http://purl.obolibrary.org/obo/MONDO_0018230 primary bone dysplasia http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disease http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/MONDO_0015331 malformation syndrome with skin/mucosae involvement http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/MONDO_0020063 malformation syndrome with hamartosis http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://purl.obolibrary.org/obo/MONDO_0015603 rare odontal or periodontal disorder http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/MONDO_0015220 syndrome with a central nervous system malformation as major feature http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0016998 complex chromosomal rearrangement http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/MONDO_0020149 rare eye disease due to a differentiation anomaly http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/CMO_0002952 heart right atrium weight to body weight ratio http://purl.obolibrary.org/obo/CMO_0002951 calculated heart right atrium morphological measurement http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/CMO_0002977 afferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/CMO_0002978 efferent colloid osmotic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/CMO_0002985 efferent arteriolar hydraulic pressure http://purl.obolibrary.org/obo/CMO_0002970 arteriole measurement http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000238 physician question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000240 hospital question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/OPMI_0000252 patient condition question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/OPMI_0000269 HIPAA release http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/OPMI_0000173 BMI question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OPMI_0000176 question about blood transfusion http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/OPMI_0000178 pregnancy question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/OPMI_0000180 transplant question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/OPMI_0000030 textual question http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/OPMI_0000199 KPMP medical history form http://purl.obolibrary.org/obo/OPMI_0000031 medical history form http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/OPMI_0000193 KPMP demographic information form http://purl.obolibrary.org/obo/OPMI_0000033 demographic information form http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/OPMI_0000208 KPMP physical measurement form http://purl.obolibrary.org/obo/OPMI_0000034 physical measurement form http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/OPMI_0000259 CRF filled up by patient http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/OPMI_0000261 CRF filled up by research coordinator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/OPMI_0000262 CRF filled up by biopsy operator http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000263 biopsy-related CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000266 screening and patient tracking CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/OPMI_0000267 enrollment CRF http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/OPMI_0000183 KPMP clinical report form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000049 biosample collection form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000050 clinic reception form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/OPMI_0000314 CRF filled up by participant candidate http://purl.obolibrary.org/obo/OPMI_0000039 case report form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/OPMI_0000198 KPMP laboratory result form http://purl.obolibrary.org/obo/OPMI_0000040 laboratory result form http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000202 KPMP new patient form http://purl.obolibrary.org/obo/OPMI_0000041 new patient form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000043 kidney biopsy procedure form http://purl.obolibrary.org/obo/OPMI_0000042 biopsy procedure form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000200 KPMP consent form http://purl.obolibrary.org/obo/OPMI_0000044 consent form http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/OPMI_0000046 paper form with signature required http://purl.obolibrary.org/obo/OPMI_0000045 paper form http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/OPMI_0000201 KPMP medications form http://purl.obolibrary.org/obo/OPMI_0000051 medications form http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000204 KPMP participant study status form http://purl.obolibrary.org/obo/OPMI_0000052 participant study status form http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/OPMI_0000264 post biopsy hospitlization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000053 hospitalization form http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/OPMI_0000207 KPMP personal history form http://purl.obolibrary.org/obo/OPMI_0000054 personal history form http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/OPMI_0000196 KPMP AKI hospitalization form http://purl.obolibrary.org/obo/OPMI_0000055 AKI hospitalization form http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/OPMI_0000197 KPMP CKD hospitalization form http://purl.obolibrary.org/obo/OPMI_0000056 CKD hospitalization form http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/OPMI_0000203 KPMP participant reported outcome measures form http://purl.obolibrary.org/obo/OPMI_0000057 participant reported outcome measures form http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/OPMI_0000194 KPMP health literacy questionnaire form http://purl.obolibrary.org/obo/OPMI_0000058 health literacy questionnaire form http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/OPMI_0000209 KPMP post biopsy form http://purl.obolibrary.org/obo/OPMI_0000060 post biopsy form http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/OPMI_0000210 KPMP tissue tracking form http://purl.obolibrary.org/obo/OPMI_0000061 tissue tracking form http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/OPMI_0000205 KPMP pathology images upload form http://purl.obolibrary.org/obo/OPMI_0000062 pathology images upload form http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OPMI_0000211 KPMP Dx core - .jpg images QC form http://purl.obolibrary.org/obo/OPMI_0000063 diagnostic core .jpg images QC form http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/OPMI_0000212 KPMP Dx core - disease categories form http://purl.obolibrary.org/obo/OPMI_0000064 diagnostic core - disease categories form http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://purl.obolibrary.org/obo/OPMI_0000213 KPMP central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/OPMI_0000065 central path quality metrics assessment Dx core form http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/OPMI_0000214 KPMP central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/OPMI_0000066 central path quality metrics assessment interrogation core form http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/OPMI_0000206 KPMP patient experience survey form http://purl.obolibrary.org/obo/OPMI_0000067 post-biopsy patient experience survey form http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OPMI_0000320 hemoglobin test positive with result < 9 g/dl http://purl.obolibrary.org/obo/OPMI_0000319 hemoglobin test finding http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000328 patient status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OPMI_0000350 consent status http://purl.obolibrary.org/obo/OPMI_0000326 status http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OPMI_0000345 excellent quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/OPMI_0000346 very good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/OPMI_0000347 good quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/OPMI_0000348 fair quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/OPMI_0000349 poor quality of life http://purl.obolibrary.org/obo/OPMI_0000344 quality of life http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000355 What birth weight http://purl.obolibrary.org/obo/OPMI_0000354 medical history question http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000358 JAPIC clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000359 JMACCT clinical trial identifier http://purl.obolibrary.org/obo/OPMI_0000356 Japan clinical trial identifier http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/OPMI_0004483 age at diagnosis of kidney disease http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0004493 age at diagosis of diabetes http://purl.obolibrary.org/obo/OPMI_0004482 age at diagnosis of disease http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/OPMI_0000253 Whether diabetic kidney disease (DKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/OPMI_0000254 Whether hypertensive CKD (H-CKD) http://purl.obolibrary.org/obo/OPMI_0004484 Whether chronic kidney disease http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004486 time of biopsy http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/OPMI_0004487 year of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/OPMI_0004489 month of kidney biopsy http://purl.obolibrary.org/obo/OPMI_0004488 time of kidney biopsy http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0004490 age at the start of kidney stone http://purl.obolibrary.org/obo/OPMI_0004491 age at the start of disease http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/OPMI_0004495 What type of diabetes http://purl.obolibrary.org/obo/OPMI_0004494 What disease http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0004498 surgical treatment question http://purl.obolibrary.org/obo/OPMI_0004496 treatment question http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OPMI_0004499 Whether taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/OPMI_0004497 medicatoin treatment question http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/OPMI_0004501 age at the start of taking medication for diabetes http://purl.obolibrary.org/obo/OPMI_0004500 age at the start of medication http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004502 What medication http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/OPMI_0004504 Whether insulin taken for diabetes http://purl.obolibrary.org/obo/OPMI_0004503 What medication taken for diabetes http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/MONDO_0030056 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002260 Osteoporosis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003307 Corneal Edema [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003148 Vulvovaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007956 Recombinant Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007615 Globulins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006699 Nystatin [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008478 Decreased Cell Wall Integrity [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008577 Decreased DNA Replication [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009399 Increased Metabolic Rate [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008344 Cellular Growth Phase Arrest [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://purl.obolibrary.org/obo/CMO_0002783 glomerular filtration rate to body weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCBITaxon_5782 Dictyostelium http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/CMO_0002955 number of podocytes to glomerular volume ratio http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/OPMI_0000162 emergency contact phone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/NCBITaxon_1980410 Bunyavirales http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/MPATH_1000 pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0000323 late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/UBERON_0003121 pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis. http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/UBERON_0005338 outflow tract aortic component An outflow tract that is part of a aorta. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/DRON_00000005 drug product a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://purl.obolibrary.org/obo/SO_0001260 sequence_collection A collection of discontinuous sequences. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute An attribute describes a quality of sequence. http://purl.obolibrary.org/obo/OMRSE_00000030 human patient role A patient role that inheres in a human being. http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/SO_0000110 sequence_feature Any extent of continuous biological sequence. http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/ExO_0000000 exposure stressor http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/ExO_0000001 exposure receptor http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000001 entity http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/OGG_3000006590 SLPI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HUSI-I http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/OGG_3000006649 SOD3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens EC-SOD http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/OGG_3000006662 SOX9 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CMPD1 http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/OGG_3000006696 SPP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens ETA-1 http://purl.obolibrary.org/obo/OGG_3000006781 STC1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens STC http://purl.obolibrary.org/obo/OGG_3000006857 SYT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P65 http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OGG_3000006876 TAGLN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TAGLN1 http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/OGG_3000006899 TBX1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens VCFS http://purl.obolibrary.org/obo/OGG_3000007026 NR2F2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens SVP40 http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/OGG_3000007033 TFF3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens P1B http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/OGG_3000007040 TGFB1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGFbeta http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/OGG_3000007043 TGFB3 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TGF-beta3 http://purl.obolibrary.org/obo/OGG_3000007045 TGFBI http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CSD2 http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/OGG_3000007056 THBD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THPH12 http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/OGG_3000007076 TIMP1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HCI http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/OGG_3000007077 TIMP2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens DDC8 http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/OGG_3000007097 TLR2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TIL4 http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/OGG_3000007122 CLDN5 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens CPETRL1 http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/VO_0000494 vaccine immunization http://purl.obolibrary.org/obo/VO_0000491 active immunization artificial active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/VO_0000590 vaccine preparation http://purl.obolibrary.org/obo/OBI_0000011 planned process vaccine production vaccine preparation is a manufacturing process to produce a vaccine. http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/VO_0000340 intramuscular route http://purl.obolibrary.org/obo/VO_0000574 route of administration intramuscular injection route a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/VO_0000452 preventive vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function prophylactic vaccine function preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/VO_0000640 Clostridium tetani vaccine http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine Tetanus toxoid vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/ENVO_01000951 natural environment http://purl.obolibrary.org/obo/ENVO_01000254 environmental system non-anthropized environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/IAO_0000300 textual entity human name A name of a person, which can have different types http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/OPMI_0000099 person legal name http://purl.obolibrary.org/obo/OPMI_0000094 person name legal name A person name that identifies a person for legal, administrative and other official purposes http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/OPMI_0000111 education level http://purl.obolibrary.org/obo/OPMI_0000121 socioeconomic status highest degree of school completed An education level that indicates that the highest level of education achievement for a person. http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000112 telephone number http://purl.obolibrary.org/obo/IAO_0000577 centrally registered identifier symbol phone number A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/OPMI_0000113 home telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number home phone number A telephone number used for a phone at home http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000114 work telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number work phone number A telephone number used for a phone at work http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/OPMI_0000116 unemployment status http://purl.obolibrary.org/obo/OPMI_0000122 employment status unemployment The status of actively looking for employment, but not being currently employed. http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000418 human subject study http://purl.obolibrary.org/obo/OBI_0000066 investigation human study A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/OPMI_0000469 medical record number http://purl.obolibrary.org/obo/IAO_0000578 CRID medical record ID A centrality registered identifier for a medical record. http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time http://purl.obolibrary.org/obo/BFO_0000038 one-dimensional temporal region time of birth time that is related to the birth http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/CHEBI_51061 hormone receptor modulator Any compound that can disrupt the functions of the endocrine (hormone) system http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/NCIT_C37907 Age-Months http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in months since birth. http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/NCIT_C37908 Age-Years http://purl.obolibrary.org/obo/NCIT_C25150 Age The length of a person's life, stated in years since birth. http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C90464 Terminal Body Weight http://purl.obolibrary.org/obo/NCIT_C81328 Body Weight The weight of a subject at a specified end point. http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/PR_000036947 T-cell surface glycoprotein CD1 (human) http://purl.obolibrary.org/obo/PR_000029067 Homo sapiens protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OAE_0004428 subcapsular hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/OAE_0004429 perinephric hematoma AE http://purl.obolibrary.org/obo/OAE_0000650 hematoma AE An adverse event of hematoma occurring around the kidney. http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/CL_4030066 ureteric bud cell http://purl.obolibrary.org/obo/CL_0002518 kidney epithelial cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/VO_0000278 vaccine function http://purl.obolibrary.org/obo/BFO_0000034 function vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000490 immunization http://purl.obolibrary.org/obo/BFO_0000015 process immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000491 active immunization http://purl.obolibrary.org/obo/VO_0000490 immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0001274 vaccine host role http://purl.obolibrary.org/obo/OBI_0000725 host role a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/VO_0000093 mineral salt vaccine adjuvant http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine adjuvant that is formed as a mineral salt. http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000147 vaccine adjuvant role http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine http://purl.obolibrary.org/obo/VO_0000001 vaccine A vaccine that targets against a bacterial disease. http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000495 induction of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/VO_0000496 disorder prevention http://purl.obolibrary.org/obo/BFO_0000015 process disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000497 disorder treatment http://purl.obolibrary.org/obo/BFO_0000015 process disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000498 modification of adaptive immune response to antigen http://purl.obolibrary.org/obo/VO_0000491 active immunization modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000562 therapeutic vaccine function http://purl.obolibrary.org/obo/VO_0000278 vaccine function The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000574 route of administration http://purl.obolibrary.org/obo/BFO_0000029 site a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000585 immunization objective http://purl.obolibrary.org/obo/IAO_0000005 objective specification immunization objective is the specification of an objective to achieve immunization. http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role http://purl.obolibrary.org/obo/VO_0000615 vaccine role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000639 Clostridium vaccine http://purl.obolibrary.org/obo/VO_0000165 bacterial vaccine A bacterial vaccine that protects against infection with Clostridium spp. http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/VO_0000609 viral vaccine A viral vaccine that protects against infection with Hepatitis B virus. http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000812 USA licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/VO_0000854 vaccine residual http://purl.obolibrary.org/obo/VO_0000179 vaccine component a vaccine component that remains from the vaccine manufacturing process. http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000854 vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/VO_0000864 Canada licensed vaccine role http://purl.obolibrary.org/obo/VO_0000630 licensed vaccine role a licensed status that occurs in Canada. http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0000940 yeast protein cell culture residual in vaccine http://purl.obolibrary.org/obo/VO_0000856 cell culture residual in vaccine a cell culture residual in vaccine that is yeast protein. http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/VO_0001187 intramuscular vaccination http://purl.obolibrary.org/obo/VO_0000002 vaccination a vaccination that occurs in the intramuscular route. http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0001479 vaccine target specification http://purl.obolibrary.org/obo/IAO_0000005 objective specification The objective that intends to produce vaccine via the vaccine preparation process. http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/ENVO_03000010 material transport process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/ENVO_03000043 material transformation process http://purl.obolibrary.org/obo/ENVO_02500000 environmental system process A process during which a portion of some environmental material is converted into a different material or a collection of materials. http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation http://purl.obolibrary.org/obo/ENVO_02500027 anthropogenic environmental process A process during which a natural environmental system is altered by human action. http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/ENVO_01000983 technosphere http://purl.obolibrary.org/obo/ENVO_01000813 astronomical body part A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/ENVO_01000993 manufacturing process http://purl.obolibrary.org/obo/ENVO_01000952 anthropisation A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/NCIT_C41222 Not Hispanic or Latino http://purl.obolibrary.org/obo/NCIT_C16564 Ethnic Group A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean http://purl.obolibrary.org/obo/NCIT_C17049 Race Denotes a person of African ancestral origins whose family settled in the Caribbean region. http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/NCIT_C41262 Asian Indian http://purl.obolibrary.org/obo/NCIT_C41263 South Asian A person having origins in the original peoples of the Indian sub-continent. http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C41263 South Asian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43389 Aleutian http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C17049 Race The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43391 Chinese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of China. http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43392 Japanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Japan.. http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43393 Filipino http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of the Philippine Islands. http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43394 Native Hawaiian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Hawaii. http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43395 Korean http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Korea. http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C43396 Vietnamese http://purl.obolibrary.org/obo/NCIT_C41260 Asian A person having origins in any of the original peoples of Viet Nam. http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C43397 Laotian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C43398 Hmong http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/NCIT_C43399 Cambodian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43400 Thai http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43403 Chamorran http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43404 Guamanian http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43406 Tahitian http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43407 Samoan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian A person having origins in any of the original peoples of Samoa. http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C43408 Tongan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian http://purl.obolibrary.org/obo/NCIT_C41219 Native Hawaiian or Other Pacific Islander Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/NCIT_C43410 Fiji Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/NCIT_C43411 Papua New Guinean http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C43427 Pakistani http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43671 Bangladeshi http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C43672 Sri Lankan http://purl.obolibrary.org/obo/NCIT_C41263 South Asian Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C43673 Bhutanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C43674 Burmese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C43675 Taiwanese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C43715 Indonesian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43716 Malaysian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43717 Okinawan http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43718 Iwo Jiman http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/NCIT_C43719 Maldivian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43720 Nepalese http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C43721 Singaporean http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43722 Malagasy http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43823 Barbadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/NCIT_C43824 Dominica Islander http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43825 Haitian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43826 Jamaican http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/NCIT_C43827 Tobagoan http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/NCIT_C43828 Trinidadian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/NCIT_C43829 West Indian http://purl.obolibrary.org/obo/NCIT_C41226 African Caribbean Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43830 Botswanan http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/NCIT_C43831 Ethiopian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43832 Liberian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43833 Namibian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C43834 Nigerian http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43835 Zairean http://purl.obolibrary.org/obo/NCIT_C42331 African Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43836 Tokelauan http://purl.obolibrary.org/obo/NCIT_C43405 Polynesian Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C43837 Guamanian or Chamorro http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian A person having origins in any of the original peoples of Guam or the Mariana Islands. http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43838 Mariana Islander http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43839 Marshallese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43840 Palauan http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/NCIT_C43841 Carolinian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43842 Kosraean http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43843 Pohnpeian http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43844 Saipanese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43845 Kiribati http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43846 Chuukese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43847 Yapese http://purl.obolibrary.org/obo/NCIT_C43402 Micronesian Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43849 Solomon Islander http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43850 New Hebrides http://purl.obolibrary.org/obo/NCIT_C43409 Melanesian Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43851 European http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C43852 Armenian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43853 English http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of England, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43854 French http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of France, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C43855 German http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43856 Irish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43857 Italian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C43858 Polish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43859 Scottish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43860 Russian http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/NCIT_C43861 Swedish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43862 Norwegian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43863 Ukranian http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43864 Mongolian http://purl.obolibrary.org/obo/NCIT_C41260 Asian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43865 Finnish http://purl.obolibrary.org/obo/NCIT_C43851 European Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African http://purl.obolibrary.org/obo/NCIT_C41261 White Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43867 Assyrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C43868 Egyptian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43869 Iranian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43870 Iraqi http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43871 Lebanese http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43872 Palestinian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43873 Syrian http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43874 Afghanistani http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43875 Israeli http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C43876 Arab http://purl.obolibrary.org/obo/NCIT_C43866 Middle Eastern or North African Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C41259 American Indian or Alaska Native Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/ENVO_01001110 ecosystem http://purl.obolibrary.org/obo/ENVO_01000254 environmental system An environmental system which includes both living and non-living components. http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm http://purl.obolibrary.org/obo/MONDO_0005070 neoplasm (disease) A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/MONDO_0021060 RASopathy http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/OPMI_0000093 personal information http://purl.obolibrary.org/obo/IAO_0000030 information content entity information associated with an individual http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000098 person full name http://purl.obolibrary.org/obo/OPMI_0000094 person name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000100 birth name http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is given at birth http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000101 person login username http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is used for a person to access a computer system. http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000102 maiden name http://purl.obolibrary.org/obo/OPMI_0000096 person last name A woman's surname before marriage http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/OPMI_0000103 pseudonym http://purl.obolibrary.org/obo/OPMI_0000094 person name A person name that is fictitious and generated for a person to perform a particular social role. http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000326 status Personal information that indicates a person's status in marriage http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000108 widowed marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/HP_0032263 Increased blood pressure http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OGMS_0000123 clinical data item http://purl.obolibrary.org/obo/IAO_0000027 data item A data item that is about a patient and is the specified output of a health care process assay or diagnostic process http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000431 positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000432 negative diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000433 presumptive positive diagnosis http://purl.obolibrary.org/obo/OGMS_0000073 diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://purl.obolibrary.org/obo/HP_0033131 Renal medullary hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity Increased echogenecity of the kidney cortex. http://purl.obolibrary.org/obo/OPMI_0000465 susceptibility to biological up-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000466 susceptibility to biological down-regulation http://purl.obolibrary.org/obo/OPMI_0000462 susceptibility to biological regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://purl.obolibrary.org/obo/OPMI_0000470 person ID http://purl.obolibrary.org/obo/IAO_0000578 CRID A centrally registered identifier that is uniquely assigned to a person. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000472 date of hospital admission http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 指患者实际入病房的接诊时间 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000473 year of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A year when an organism (e.g., a human) is born. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000474 month of birth http://purl.obolibrary.org/obo/OPMI_0000478 birth-related time A month when an organism (e.g., a human) is born. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000476 date of hospital discharge http://purl.obolibrary.org/obo/IAO_0000416 time measurement datum 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000477 residents health card number http://purl.obolibrary.org/obo/OPMI_0000093 personal information 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly Any structural anomaly of the fetus. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000556 device exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a device exposure occurs http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region http://purl.obolibrary.org/obo/BFO_0000148 zero-dimensional temporal region the date or time on which a drug exposure occurs in a patient http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://purl.obolibrary.org/obo/OPMI_0000565 drug exposure start date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure starts. http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000566 drug exposure start datetime http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date and time on which a drug exposure starts. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/OPMI_0000567 drug exposure end date http://purl.obolibrary.org/obo/OPMI_0000564 drug exposure temporal region The date on which a drug exposure ends for a patient. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000572 drug exposure http://purl.obolibrary.org/obo/OPMI_0000618 medical exposure An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/CL_4030010 epithelial cell of proximal tubule segment 2 http://purl.obolibrary.org/obo/CL_0002306 epithelial cell of proximal tubule Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/OPMI_0000583 payer plan http://purl.obolibrary.org/obo/OPMI_0000093 personal information Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/HP_0034557 Rhabdoid tumor http://purl.obolibrary.org/obo/HP_0011792 Neoplasm by histology Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://purl.obolibrary.org/obo/HP_0034684 Abnormal enzyme concentration or activity http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis Concentration or activity of an enzyme is above or below the limits of normal. http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/OGG_3000007153 TOP2A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TP2A http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OGG_3000007185 TRAF1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:10353 http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/OGG_3000007186 TRAF2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MGC:45012 http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/OGG_3000007369 UMOD http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens THGP http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/OGG_3000007379 UPK2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPII http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/OGG_3000007380 UPK3A http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens UPIIIA http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/OGG_3000007412 VCAM1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens INCAM-100 http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/OGG_3000007422 VEGFA http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MVCD1 http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/OGG_3000007431 VIM http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HEL113 http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000007472 WNT2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens IRP http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000007490 WT1 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WIT-2 http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/OGG_3000007827 NPHS2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PDCN http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OGG_3000007852 CXCR4 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens WHIM http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000007980 TFPI2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens TFPI-2 http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/OGG_3000008029 CUBN http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens gp280 http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000008074 FGF23 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PHPTC http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000008170 SLC14A2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens hUT-A6 http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/OGG_3000338917 VSX2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens MCOPCB3 http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/OGG_3000348158 ACSM2B http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens HXMA http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/OGG_3000349667 RTN4RL2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens NgR2 http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/OGG_3000374462 PTPRQ http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens PTPGMC1 http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/OGG_3000406933 MIR141 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN141 http://purl.obolibrary.org/obo/OGG_3000406967 MIR192 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens miRNA192 http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/OGG_3000406983 MIR200A http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200A http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/OGG_3000406984 MIR200B http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200B http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/OGG_3000406985 MIR200C http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN200C http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OGG_3000406988 MIR205 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN205 http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/OGG_3000554210 MIR429 http://purl.obolibrary.org/obo/OGG_2100009606 ncRNA gene of Homo sapiens MIRN429 http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000095 person first name http://purl.obolibrary.org/obo/OPMI_0000094 person name given name http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000096 person last name http://purl.obolibrary.org/obo/OPMI_0000094 person name surname http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status married http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/OPMI_0000115 cellular telephone number http://purl.obolibrary.org/obo/OPMI_0000112 telephone number cellular phone number http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000468 healthcare organization http://purl.obolibrary.org/obo/OBI_0000245 organization health care organization http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/OAE_0004430 arteriovenous fistula AE http://purl.obolibrary.org/obo/OAE_0000212 fistula AE http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000202 beta Lactamase Inhibitors [MoA] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000133 Enzyme Inhibitors [MoA] http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000851 Corneal Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001181 Eye Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001667 Immunologic Deficiency Syndromes [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001668 Immune System Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002225 Opportunistic Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002319 Parasitic Diseases [Disease/Finding] http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002067 Musculoskeletal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002768 Skin Neoplasms [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000002130 Neoplasms by Site [Disease/Finding] http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006448 Hydrochloric Acid [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007794 Chlorine Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005817 Proteins [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007833 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007646 Lactones [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000005746 Metolazone [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000175104 Quinazolinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006018 torsemide [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008048 Sulfonamides [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008336 Cell Wall Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008346 Cellular Structure Alteration [PE] http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008573 Decreased Cytokine Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008665 Decreased Immunologically Active Molecule Production [PE] http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009074 Immunologically Active Molecule Activity Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009073 Immunologic Activity Alteration [PE] http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009546 Increased Renal Ca++ Excretion [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009550 Increased Renal Ion Excretion [PE] http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009749 Metabolic Rate Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009748 Metabolic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148568 BASILIXIMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010584 B [Preparations] http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020410 CALCIFEDIOL http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010585 C [Preparations] http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010586 D [Preparations] http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000176091 ECULIZUMAB http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010587 E [Preparations] http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148246 FOSCARNET http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010588 F [Preparations] http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147647 GLUCOSE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010589 G [Preparations] http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146498 METOLAZONE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010595 M [Preparations] http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147000 SODIUM LACTATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148022 SULBACTAM http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010601 S [Preparations] http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148359 TORSEMIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148372 TACROLIMUS http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000010602 T [Preparations] http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011356 Benzylisoquinolines [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135721 Intraperitoneal Solution [Dose Form] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000135717 Injectable Solution [Dose Form] http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/VO_0000713 vaccine allergen disposition http://purl.obolibrary.org/obo/BFO_0000016 disposition http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/VO_0000615 vaccine role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/BFO_0000023 role http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C42568 Unit by Category http://purl.obolibrary.org/obo/IAO_0000030 information content entity http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000117 home postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OPMI_0000118 work postal address http://purl.obolibrary.org/obo/IAO_0000422 postal address http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/VO_0000299 company http://purl.obolibrary.org/obo/OBI_0000245 organization http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/OGG_3000007425 VGF http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/OGG_3000286204 CRB2 http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OGG_3000441478 NRARP http://purl.obolibrary.org/obo/OGG_2060009606 protein-coding gene of Homo sapiens http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCBITaxon_2497576 Ellioviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/CHEBI_144644 a tetracycline zwittterion http://purl.obolibrary.org/obo/CHEBI_26895 tetracyclines http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002809 systolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CMO_0002810 diastolic blood pressure variability http://purl.obolibrary.org/obo/CMO_0000008 calculated blood pressure http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/CMO_0002811 mean arterial blood pressure variability http://purl.obolibrary.org/obo/CMO_0000009 mean arterial blood pressure http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002067 tissue molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/CMO_0000087 kidney morphological measurement http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/CMO_0000181 end-systolic volume http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0000197 cardiac output measurement http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/CMO_0000221 end-diastolic volume http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0000223 stroke volume http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/CMO_0002860 Monophasic action potential http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/CMO_0002861 Conduction velocity http://purl.obolibrary.org/obo/CMO_0000230 heart electrical conduction measurement http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0000490 blood glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0000605 left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/CMO_0002903 renal medullary blood flow rate http://purl.obolibrary.org/obo/CMO_0000907 renal blood flow rate http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/CMO_0000952 heart right ventricle morphological measurement http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0003013 artery tunica media to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/CMO_0003014 artery lumen to artery total diameter ratio http://purl.obolibrary.org/obo/CMO_0000967 calculated artery wall thickness measurement http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0000981 ventricle contraction measurement http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0000984 calculated heart left ventricle morphological measurement http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0001165 kidney glomerulus morphological measurement http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/CMO_0001177 kidney protein/peptide composition measurement http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002889 maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio http://purl.obolibrary.org/obo/CMO_0001745 maximum rate of positive change in left ventricular blood pressure http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/CMO_0002943 renal filtration fraction http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/CMO_0002946 single nephron filtration fraction http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/CMO_0001997 blood vessel morphological measurement http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/CMO_0002853 aorta wall phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002001 calculated aorta wall molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002849 mesenteric artery morphological measurement http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/CMO_0002812 heart rate variability http://purl.obolibrary.org/obo/CMO_0002161 calculated heart rate measurement http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/CMO_0002815 ratio of number of glomeruli with microaneurysms to number of total glomeruli http://purl.obolibrary.org/obo/CMO_0002378 calculated kidney non-tumorous lesion measurement http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002496 heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/CMO_0002872 A wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0002873 E' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0002874 A' wave velocity http://purl.obolibrary.org/obo/CMO_0002502 heart blood flow measurement http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002597 heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCBITaxon_1980467 Dobrava-Belgrade orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/HP_0033133 Renal cortical hypoechogeneity http://purl.obolibrary.org/obo/HP_0033130 Abnormal renal echogenicity http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCBITaxon_2058185 Dictyosteliaceae http://purl.obolibrary.org/obo/NCBITaxon_2058949 Dictyosteliales http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003077 Urinary Calculi [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000181149 Urolithiasis [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003107 Vaginitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003104 Vaginal Diseases [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008347 Cellular Synthetic Activity Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146424 CALCIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146031 CALCIUM http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146546 MAGNESIUM CHLORIDE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000146038 MAGNESIUM http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009773 Organic Ion Synthesis Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009772 Organic Ion Metabolism Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000004374 basiliximab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011180 Recombinant Fusion Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179786 eculizumab [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011174 Antibodies, Monoclonal [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006841 Sulbactam [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011281 Penicillins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007914 Blood Coagulation Factors [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007921 Blood Proteins [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006290 Vitamin K [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007814 Naphthoquinones [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C18237 Alaska Native http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000897 Cytomegalovirus Infections [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001533 Herpesviridae Infections [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003147 Vulvitis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000003145 Vulvar Diseases [Disease/Finding] http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001527 Herpes Genitalis [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000001530 Herpes Simplex [Disease/Finding] http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006559 Sodium Lactate [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006568 Lactates [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006402 Glucose [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007604 Hexoses [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006545 Calcium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007800 Calcium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007198 Magnesium Chloride [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007803 Magnesium Compounds [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007166 Foscarnet [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007721 Phosphonoacetic Acid [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006996 Cholecalciferol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006277 Vitamin D [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007915 Secosteroids [Chemical/Ingredient] http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006507 Calcifediol [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007988 Hydroxycholecalciferols [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008339 Cellular Cycle Alteration [PE] http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008656 Decreased Hematopoiesis [PE] http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000179656 digoxin antibodies Fab fragments [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000169389 Immunoglobulin Fab Fragments [Chemical/Ingredient] http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/CMO_0002862 E/E' wave ratio http://purl.obolibrary.org/obo/CMO_0002788 calculated heart blood flow measurement http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002791 heart intraventricular end-diastolic wall thickness http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002792 heart intraventricular end-systolic wall thickness http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000588 Bone Diseases, Metabolic [Disease/Finding] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000584 Bone Diseases [Disease/Finding] http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000011420 cisatracurium [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000006674 Atracurium [Chemical/Ingredient] http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007302 Tacrolimus [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000007529 Macrolides [Chemical/Ingredient] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000020013 Cellular Growth Phase Reduction [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008343 Cellular Growth Phase Alteration [PE] http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008998 Decreased T Lymphocyte Production [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008699 Decreased Lymphocyte Cell Production [PE] http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000008380 DNA Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000009766 Nucleic Acid Replication Alteration [PE] http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000147621 DIGOXIN IMMUNE FAB (OVINE) http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000021229 DIGOXIN IMMUNE FAB http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000148433 CISATRACURIUM BESYLATE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000022024 CISATRACURIUM http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002909 heart left ventricle end-diastolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/CMO_0002910 heart left ventricle end-systolic elastance http://purl.obolibrary.org/obo/CMO_0002911 calculated ventricle contraction measurement http://purl.obolibrary.org/obo/CMO_0002912 Heart left ventricle diastolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002914 Calculated endo-diastolic volume http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002913 Heart left ventricle systolic volume-axis intercept (V0) http://purl.obolibrary.org/obo/CMO_0002915 Calculated endo-systolic volume http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/CMO_0002917 kidney medullary adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002918 kidney cortical adrenomedullin level http://purl.obolibrary.org/obo/CMO_0002916 kidney adrenomedullin level http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/CMO_0002944 glomerular filtration rate to kidney weight ratio http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://purl.obolibrary.org/obo/CMO_0002945 single nephron glomerular filtration rate http://purl.obolibrary.org/obo/CMO_0002931 calculated glomerular filtration rate http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/CMO_0002934 heart insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/CMO_0002938 heart right ventricle molecular composition measurement http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002933 heart ribonucleic acid composition measurement http://purl.obolibrary.org/obo/CMO_0002936 heart right ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002937 heart right ventricle ribonucleic acid content http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002939 heart left ventricle insulin-like growth factor 1 mRNA level http://purl.obolibrary.org/obo/CMO_0002935 heart left ventricle ribonucleic acid content http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/CMO_0002942 heart left ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/CMO_0002941 heart right ventricle insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/CMO_0002940 heart insulin-like growth factor 1 receptor mRNA level http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/CMO_0002948 renal tubulointerstitial score http://purl.obolibrary.org/obo/CMO_0002947 calculated kidney morphological measurement http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/VO_0000415 vaccine additive role http://purl.obolibrary.org/obo/VO_0000617 vaccine component role http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/VO_0010737 Recombivax HB http://purl.obolibrary.org/obo/VO_0000644 Hepatitis B virus vaccine http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/VO_0000913 latex vaccine allergen http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44265 Greenland Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43390 Eskimo http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C43650 Alaska Indian http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/NCIT_C43878 Abenaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/NCIT_C43879 Algonquian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/NCIT_C43894 Arikara http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/NCIT_C43895 Assiniboine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/NCIT_C43898 Bannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/NCIT_C43899 Blackfeet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43900 Brotherton http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/NCIT_C43901 Burt Lake Band http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43917 Catawba http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43918 Cayuse http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43919 Chehalis http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43923 Chemehuevi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43929 Cheyenne-Arapaho http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43933 Chickasaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43938 Chitimacha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43947 Clear Lake http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43948 Coeur D'Alene http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43949 Coharie http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43950 Colorado River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43951 Colville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43954 Coos Lower Umpqua Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43955 Coos http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43956 Coquilles http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43957 Costanoan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43962 Cree http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43964 Croatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C43965 Crow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/NCIT_C43969 Delaware http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43972 Esselen http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43973 Fort Belknap http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/NCIT_C43974 Fort Berthold http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43975 Fort McDowell http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43976 Fort Hall http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/NCIT_C43977 Gabrieleno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/NCIT_C43978 Grand Ronde http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/NCIT_C43981 Haliwa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C43982 Hidatsa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43986 Hoopa Extension http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/NCIT_C43987 Houma http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43988 Inaja-Cosmit http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/NCIT_C43993 Juaneno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43994 Kalispel http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/NCIT_C43995 Karuk http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C43996 Kaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44006 Klamath http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/NCIT_C44007 Konkow http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44009 Lassik http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/NCIT_C44023 Lumbee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C44024 Lummi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C44028 Makah http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/NCIT_C44029 Maliseet http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/NCIT_C44030 Mandan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C44031 Mattaponi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44032 Menominee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44037 Miccosukee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C44040 Mission Indians http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44041 Miwok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44042 Modoc http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44043 Mohegan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C44044 Mono http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/NCIT_C44045 Nanticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/NCIT_C44046 Narragansett http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44052 Nez Perce http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44053 Nomalaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44065 Omaha http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/NCIT_C44066 Oregon Athabaskan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44067 Osage http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/NCIT_C44068 Otoe-Missouria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/NCIT_C44074 Pamunkey http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/NCIT_C44080 Penobscot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44088 Piscataway http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C44089 Pit River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44095 Powhatan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44103 Quapaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44104 Quinault http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44105 Rappahannock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44106 Reno-Sparks http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44107 Round Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44112 Salinan http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44115 Schaghticoke http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44116 Scott Valley http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/NCIT_C44125 Shasta http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C44129 Shinnecock http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44130 Shoalwater Bay http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44136 Siletz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C44192 Siuslaw http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44193 Spokane http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44194 Stewart http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44195 Stockbridge http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44196 Susanville http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44202 Tolowa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C44203 Tonkawa http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/NCIT_C44204 Tygh http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44205 Umatilla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44212 Wailaki http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/NCIT_C44213 Walla-Walla http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/NCIT_C44217 Warm Springs http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/NCIT_C44218 Wascopum http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44223 Wichita http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44224 Wind River http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44227 Nebraska Winnebago http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44228 Winnemucca http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/NCIT_C44229 Wintun http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44238 Yavapai Apache http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44244 Yuchi http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C43877 American Indian http://purl.obolibrary.org/obo/NCIT_C43881 Chiricahua http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C43882 Fort Sill Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/NCIT_C43883 Jicarilla Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C43884 Lipan Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43885 Mescalero Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/NCIT_C43886 Oklahoma Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C43887 Payson Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43888 San Carlos Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/NCIT_C43889 White Mountain Apache http://purl.obolibrary.org/obo/NCIT_C43880 Apache http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/NCIT_C43891 Northern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43892 Southern Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43893 Wind River Arapaho http://purl.obolibrary.org/obo/NCIT_C43890 Arapaho http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C43897 Fort Peck Assiniboine Sioux http://purl.obolibrary.org/obo/NCIT_C43896 Assiniboine Sioux http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C43903 Oklahoma Cado http://purl.obolibrary.org/obo/NCIT_C43902 Caddo http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/NCIT_C43905 Agua Caliente Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/NCIT_C43909 Augustine http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43910 Cabazon http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43911 Los Coyotes http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C43912 Morongo http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/NCIT_C43913 Santa Rosa Cahuilla http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/NCIT_C43914 Torres-Martinez http://purl.obolibrary.org/obo/NCIT_C43904 Cahuilla http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44506 Cahto http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44507 Chimariko http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/NCIT_C44508 Coast Miwok http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/NCIT_C44509 Digger http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44510 Kawaiisu http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/NCIT_C44511 Kern River http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44512 Mattole http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/NCIT_C44513 Red Wood http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/NCIT_C44514 Santa Rosa http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://purl.obolibrary.org/obo/NCIT_C44515 Takelma http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://purl.obolibrary.org/obo/NCIT_C44516 Wappo http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://purl.obolibrary.org/obo/NCIT_C44517 Yana http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44518 Yuki http://purl.obolibrary.org/obo/NCIT_C43915 California Tribes http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://purl.obolibrary.org/obo/NCIT_C44949 Canadian Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44950 Central American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44951 French American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44952 Mexican American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44953 South American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44954 Spanish American Indian http://purl.obolibrary.org/obo/NCIT_C43916 Canadian and Latin American Indian http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/NCIT_C43921 Hoh http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43922 Quileute http://purl.obolibrary.org/obo/NCIT_C43920 Chemakuan http://purl.obolibrary.org/obo/NCIT_C44939 Cherokee Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://purl.obolibrary.org/obo/NCIT_C44940 Cherokees of Northeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44941 Cherokees of Southeast Alabama http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44942 Eastern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/NCIT_C44943 Echota Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://purl.obolibrary.org/obo/NCIT_C44944 Etowah Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/NCIT_C44946 Tuscola http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44947 United Keetowah Band of Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/NCIT_C44948 Western Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45220 Northern Cherokee http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/NCIT_C43924 Cherokee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C43925 Cherokee Shawnee http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43927 Northern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/NCIT_C43928 Southern Cheyenne http://purl.obolibrary.org/obo/NCIT_C43926 Cheyenne http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/NCIT_C43931 Eastern Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C43932 Western Chickahominy http://purl.obolibrary.org/obo/NCIT_C43930 Chickahominy http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/NCIT_C44932 Clatsop http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/NCIT_C44934 Kathlamet http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/NCIT_C44935 Upper Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/NCIT_C44936 Wakiakum Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://purl.obolibrary.org/obo/NCIT_C44937 Willapa Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/NCIT_C44938 Wishram http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/NCIT_C45218 Columbia River Chinook http://purl.obolibrary.org/obo/NCIT_C43934 Chinook http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/NCIT_C44907 Bad River http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/NCIT_C44908 Bay Mills Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/NCIT_C44909 Bois Forte http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/NCIT_C44910 Burt Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/NCIT_C44911 Fond du Lac http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/NCIT_C44912 Grand Portage http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/NCIT_C44913 Grand Traverse Band of Ottawa Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/NCIT_C44914 Keweenaw http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44915 Lac Courte Oreilles http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/NCIT_C44916 Lac du Flambeau http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44917 Lac Vieux Desert Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/NCIT_C44918 Lake Superior http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44919 Leech Lake http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44920 Little Shell Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44921 Mille Lacs http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44922 Minnesota Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44923 Ontonagon http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44924 Red Cliff Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44925 Red Lake Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/NCIT_C44926 Saginaw Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/NCIT_C44929 Sokoagon Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C44930 Turtle Mountain http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/NCIT_C44931 White Earth http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45223 Sault Ste. Marie Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C45224 St. Croix Chippewa http://purl.obolibrary.org/obo/NCIT_C43935 Chippewa http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/NCIT_C43937 Rocky Boy's Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C43936 Chippewa Cree http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/NCIT_C43940 Clifton Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/NCIT_C43941 Jena Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/NCIT_C43942 Mississippi Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C43943 Mowa Band of Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/NCIT_C43944 Oklahoma Choctaw http://purl.obolibrary.org/obo/NCIT_C43939 Choctaw http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/NCIT_C43946 Santa Ynez http://purl.obolibrary.org/obo/NCIT_C43945 Chumash http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43953 Oklahoma Comanche http://purl.obolibrary.org/obo/NCIT_C43952 Comanche http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/NCIT_C43959 Alabama Coushatta http://purl.obolibrary.org/obo/NCIT_C43958 Coushatta http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44895 Alabama Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44896 Alabama Quassarte http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44897 Eastern Creek http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/NCIT_C44898 Eastern Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44899 Kialegee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/NCIT_C44900 Lower Muscogee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44901 Machis Lower Creek Indian http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44902 Poarch Band http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/NCIT_C44903 Principal Creek Indian Nation http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44904 Star Clan of Muscogee Creeks http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44905 Thlopthlocco http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44906 Tuckabachee http://purl.obolibrary.org/obo/NCIT_C43963 Creek http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C43968 Agua Caliente http://purl.obolibrary.org/obo/NCIT_C43967 Cupeno http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44525 Campo http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44526 Capitan Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44527 Cuyapaipe http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44528 La Posta http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44529 Manzanita http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44530 Mesa Grande http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44531 San Pasqual http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44532 Santa Ysabel http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44533 Sycuan http://purl.obolibrary.org/obo/NCIT_C43970 Diegueno http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44875 Attacapa http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44876 Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44877 Moor http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44878 Nansemond http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44879 Natchez http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44880 Nausu Waiwash http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44881 Nipmuc http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44882 Paugussett http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44883 Pocomoke Acohonock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44884 Southeastern Indians http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44885 Susquehanock http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44886 Tunica Biloxi http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44887 Waccamaw Siousan http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44888 Wicomico http://purl.obolibrary.org/obo/NCIT_C43971 Eastern Tribes http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43980 Atsina http://purl.obolibrary.org/obo/NCIT_C43979 Gros Ventres http://purl.obolibrary.org/obo/NCIT_C43984 Trinity http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43985 Whilkut http://purl.obolibrary.org/obo/NCIT_C43983 Hoopa http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43990 Iowa of Kansas-Nebraska http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C43991 Iowa of Oklahoma http://purl.obolibrary.org/obo/NCIT_C43989 Iowa http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44865 Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44866 Mohawk http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44867 Oneida http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44868 Onondaga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44869 Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44870 Seneca Nation http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44871 Seneca-Cayuga http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44872 Tonawanda Seneca http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44873 Tuscarora http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44874 Wyandotte http://purl.obolibrary.org/obo/NCIT_C43992 Iroquois http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43998 Oklahoma Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C44501 Ouzinkie http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44502 Port Lions http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C43999 Texas Kickapoo http://purl.obolibrary.org/obo/NCIT_C43997 Kickapoo http://purl.obolibrary.org/obo/NCIT_C44001 Oklahoma Kiowa http://purl.obolibrary.org/obo/NCIT_C44000 Kiowa http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44003 Jamestown http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44004 Lower Elwha http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44005 Port Gamble Klallam http://purl.obolibrary.org/obo/NCIT_C44002 Klallam http://purl.obolibrary.org/obo/NCIT_C44011 Matinecock http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44012 Montauk http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44013 Poospatuck http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44014 Setauket http://purl.obolibrary.org/obo/NCIT_C44010 Long Island http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44016 La Jolla http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44017 Pala http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44018 Pauma http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44019 Pechanga http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44020 Soboba http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44021 Twenty-Nine Palms http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44022 Temecula http://purl.obolibrary.org/obo/NCIT_C44015 Luiseno http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44026 Mountain Maidu http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C44027 Nishinam http://purl.obolibrary.org/obo/NCIT_C44025 Maidu http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44034 Illinois Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44035 Indiana Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44036 Oklahoma Miami http://purl.obolibrary.org/obo/NCIT_C44033 Miami http://purl.obolibrary.org/obo/NCIT_C44039 Aroostook http://purl.obolibrary.org/obo/NCIT_C44038 Micmac http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44049 Alamo Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44050 Canoncito Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44051 Ramah Dine http://purl.obolibrary.org/obo/NCIT_C44048 Dine http://purl.obolibrary.org/obo/NCIT_C44055 Alsea http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44056 Celilo http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44057 Columbia http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44058 Kalapuya http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44059 Molala http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44060 Talakamish http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44061 Tenino http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44062 Tillamook http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44063 Wenatchee http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44064 Yahooskin http://purl.obolibrary.org/obo/NCIT_C44054 Northwest Tribes http://purl.obolibrary.org/obo/NCIT_C44070 Burt Lake Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44071 Michigan Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44072 Oklahoma Ottawa http://purl.obolibrary.org/obo/NCIT_C44069 Ottawa http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44534 Bishop http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/NCIT_C44535 Bridgeport http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44536 Burns Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44537 Cedarville http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/NCIT_C44538 Fort Bidwell http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/NCIT_C44539 Fort Independence http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/NCIT_C44540 Kaibab http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/NCIT_C44541 Las Vegas http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44542 Lone Pine http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/NCIT_C44543 Lovelock http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/NCIT_C44544 Malheur Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44545 Moapa http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/NCIT_C44546 Northern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/NCIT_C44547 Owens Valley http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/NCIT_C44548 Pyramid Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/NCIT_C44549 San Juan Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/NCIT_C44550 Southern Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/NCIT_C44551 Summit Lake http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/NCIT_C44552 Utu Utu Gwaitu Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44553 Walker River http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/NCIT_C44554 Yerington Paiute http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/NCIT_C44076 Indian Township http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/NCIT_C44077 Pleasant Point Passamaquoddy http://purl.obolibrary.org/obo/NCIT_C44075 Passamaquoddy http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/NCIT_C44079 Oklahoma Pawnee http://purl.obolibrary.org/obo/NCIT_C44078 Pawnee http://purl.obolibrary.org/obo/NCIT_C44082 Oklahoma Peoria http://purl.obolibrary.org/obo/NCIT_C44081 Peoria http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/NCIT_C44084 Marshantucket Pequot http://purl.obolibrary.org/obo/NCIT_C44083 Pequot http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/NCIT_C44086 Gila River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/NCIT_C44087 Salt River Pima-Maricopa http://purl.obolibrary.org/obo/NCIT_C44085 Pima http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44857 Central Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44858 Dry Creek http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44859 Eastern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44860 Kashia http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44861 Northern Pomo http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44862 Scotts Valley http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44863 Stonyford http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44864 Sulphur Bank http://purl.obolibrary.org/obo/NCIT_C44090 Pomo http://purl.obolibrary.org/obo/NCIT_C44092 Nebraska Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C44093 Oklahoma Ponca http://purl.obolibrary.org/obo/NCIT_C44091 Ponca http://purl.obolibrary.org/obo/NCIT_C44850 Citzen Band Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/NCIT_C44851 Forest County http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44852 Hannahville http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/NCIT_C44853 Huron Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44854 Pokagon Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44855 Prairie Band http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44856 Wisconsin Potawatomi http://purl.obolibrary.org/obo/NCIT_C44094 Potawatomi http://purl.obolibrary.org/obo/NCIT_C44823 Acoma http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/NCIT_C44824 Arizona Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44825 Cochiti http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44826 Hopi http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44827 Isleta http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44828 Jemez http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/NCIT_C44829 Keres http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44830 Laguna http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44831 Nambe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44832 Picuris http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44833 Piro http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44834 Pojoaque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44835 San Felipe http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44836 San Ildefonso http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44837 San Juan Pueblo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/NCIT_C44838 San Juan De http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44839 San Juan http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/NCIT_C44840 Sandia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/NCIT_C44841 Santa Ana http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/NCIT_C44842 Santa Clara http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/NCIT_C44843 Santo Domingo http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/NCIT_C44844 Taos http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44845 Tesuque http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/NCIT_C44846 Tewa http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/NCIT_C44847 Tigua http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/NCIT_C44848 Zia http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/NCIT_C44849 Zuni http://purl.obolibrary.org/obo/NCIT_C44096 Pueblo http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/NCIT_C44802 Duwamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/NCIT_C44803 Kikiallus http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44804 Lower Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44805 Muckleshoot http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44806 Nisqually http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44807 Nooksack http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/NCIT_C44808 Port Madison http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/NCIT_C44809 Puyallup http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/NCIT_C44810 Samish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/NCIT_C44811 Sauk-Suiattle http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/NCIT_C44812 Skokomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44813 Skykomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/NCIT_C44814 Snohomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/NCIT_C44815 Snoqualmie http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/NCIT_C44816 Squaxin Island http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44817 Steilacoom http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/NCIT_C44818 Stillaguamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/NCIT_C44819 Suquamish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44820 Swinomish http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44821 Tulalip http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/NCIT_C44822 Upper Skagit http://purl.obolibrary.org/obo/NCIT_C44102 Puget Sound Salish http://purl.obolibrary.org/obo/NCIT_C44109 Iowa Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/NCIT_C44110 Missouri Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/NCIT_C44111 Oklahoma Sac and Fox http://purl.obolibrary.org/obo/NCIT_C44108 Sac and Fox http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/NCIT_C44008 Kootenai http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/NCIT_C44113 Salish http://purl.obolibrary.org/obo/NCIT_C44114 Salish and Kootenai http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/NCIT_C44118 Big Cypress http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/NCIT_C44119 Brighton http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C44120 Florida Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44121 Hollywood Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C44122 Oklahoma Seminole http://purl.obolibrary.org/obo/NCIT_C44117 Seminole http://purl.obolibrary.org/obo/NCIT_C44124 San Manual http://purl.obolibrary.org/obo/NCIT_C44123 Serrano http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/NCIT_C44127 Absentee Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/NCIT_C44128 Eastern Shawnee http://purl.obolibrary.org/obo/NCIT_C44126 Shawnee http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/NCIT_C44555 Battle Mountain http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44556 Duckwater http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44557 Elko http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44558 Ely http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44559 Goshute http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/NCIT_C44560 Panamint http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/NCIT_C44561 Ruby Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44562 Skull Valley http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44563 South Fork Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/NCIT_C44564 Te Moak Western Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44565 Timbi Sha Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44566 Washakie http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/NCIT_C44567 Wind River Shoshone http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44568 Yomba http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44073 Paiute http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/NCIT_C44131 Shoshone http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/NCIT_C44133 Duck Valley http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/NCIT_C44134 Fallon http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44135 Fort McDermitt http://purl.obolibrary.org/obo/NCIT_C44132 Shoshone Paiute http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44137 Sioux http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/NCIT_C44138 Blackfoot Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44139 Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/NCIT_C44140 Cheyenne River Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44148 Lower Brule Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/NCIT_C44151 Miniconjou http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44152 Oglala Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/NCIT_C44153 Pine Ridge Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/NCIT_C44157 Rosebud Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/NCIT_C44158 Sans Arc Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/NCIT_C44164 Standing Rock Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/NCIT_C44165 Two Kettle Sioux http://purl.obolibrary.org/obo/NCIT_C44141 Lakota http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/NCIT_C44144 Crow Creek Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44145 Flandreau Santee http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/NCIT_C44146 Lake Traverse Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/NCIT_C44149 Lower Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/NCIT_C44150 Mdewakanton Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/NCIT_C44154 Pipestone Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/NCIT_C44155 Prairie Island Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/NCIT_C44156 Prior Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/NCIT_C44159 Santee Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/NCIT_C44187 Upper Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/NCIT_C44188 Wahpekute Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/NCIT_C44189 Wazhaza Sioux http://purl.obolibrary.org/obo/NCIT_C44142 Dakota http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/NCIT_C44147 Fort Peck Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44163 Spirit Lake Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/NCIT_C44190 Yankton Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/NCIT_C44191 Yanktonai Sioux http://purl.obolibrary.org/obo/NCIT_C44143 Nakota http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/NCIT_C44161 Sisseton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/NCIT_C44162 Wahpeton Sioux http://purl.obolibrary.org/obo/NCIT_C44160 Sisseton-Wahpeton http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/NCIT_C44198 Ak-Chin http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/NCIT_C44199 Gila Bend http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/NCIT_C44200 San Xavier http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C44201 Sells http://purl.obolibrary.org/obo/NCIT_C44197 Tohono O'Odham http://purl.obolibrary.org/obo/NCIT_C44207 Cow Creek Umpqua http://purl.obolibrary.org/obo/NCIT_C44206 Umpqua http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/NCIT_C44209 Allen Canyon http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/NCIT_C44210 Uintah Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C44211 Ute Mountain Ute http://purl.obolibrary.org/obo/NCIT_C44208 Ute http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/NCIT_C44215 Gay Head Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/NCIT_C44216 Mashpee Wampanoag http://purl.obolibrary.org/obo/NCIT_C44214 Wampanoag http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://purl.obolibrary.org/obo/NCIT_C44220 Alpine http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/NCIT_C44221 Carson http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/NCIT_C44222 Dresslerville http://purl.obolibrary.org/obo/NCIT_C44219 Washoe http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/NCIT_C44226 Ho-Chunk http://purl.obolibrary.org/obo/NCIT_C44225 Winnebago http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/NCIT_C44231 Table Bluff http://purl.obolibrary.org/obo/NCIT_C44230 Wiyot http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/NCIT_C43961 Cowlitz http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/NCIT_C44232 Yakama http://purl.obolibrary.org/obo/NCIT_C44233 Yakama Cowlitz http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/NCIT_C44236 Barrio Libre http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/NCIT_C44237 Pascua Yaqui http://purl.obolibrary.org/obo/NCIT_C44234 Yaqui http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/NCIT_C44240 Chukchansi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://purl.obolibrary.org/obo/NCIT_C44241 Tachi http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/NCIT_C44242 Tule River http://purl.obolibrary.org/obo/NCIT_C44239 Yokuts http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/NCIT_C44246 Cocopah http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://purl.obolibrary.org/obo/NCIT_C44247 Havasupai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/NCIT_C44248 Hualapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/NCIT_C44249 Maricopa http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/NCIT_C44250 Mohave http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/NCIT_C44251 Quechan http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/NCIT_C45229 Yavapai http://purl.obolibrary.org/obo/NCIT_C44245 Yuman http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/NCIT_C44253 Coast Yurok http://purl.obolibrary.org/obo/NCIT_C44252 Yurok http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/NCIT_C44732 Ahtna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/NCIT_C44733 Alatna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/NCIT_C44734 Alexander http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/NCIT_C44735 Allakaket http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/NCIT_C44736 Alanvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/NCIT_C44737 Anvik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/NCIT_C44738 Arctic http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/NCIT_C44739 Beaver http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/NCIT_C44740 Birch Creek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/NCIT_C44741 Cantwell http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/NCIT_C44742 Chalkyitsik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/NCIT_C44743 Chickaloon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/NCIT_C44744 Chistochina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/NCIT_C44745 Chitina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44746 Circle Tribe http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/NCIT_C44747 Cook Inlet http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/NCIT_C44748 Copper Center http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/NCIT_C44749 Copper River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/NCIT_C44750 Dot Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/NCIT_C44751 Doyon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/NCIT_C44752 Eagle http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/NCIT_C44753 Eklutna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/NCIT_C44754 Evansville http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/NCIT_C44755 Fort Yukon http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44756 Gakona http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/NCIT_C44757 Galena http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44758 Grayling http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44759 Gulkana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/NCIT_C44760 Healy Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44761 Holy Cross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44762 Hughes http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44763 Huslia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/NCIT_C44764 Iliamna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/NCIT_C44765 Kaltag http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44766 Kluti Kaah http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44767 Knik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44768 Koyukuk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44769 Lake Minchumina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/NCIT_C44770 Lime http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44771 Mcgrath http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44772 Manley Hot Springs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/NCIT_C44773 Mentasta Lake http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44774 Minto http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/NCIT_C44775 Nenana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44776 Nikolai http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/NCIT_C44777 Ninilchik http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44778 Nondalton http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/NCIT_C44779 Northway http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/NCIT_C44780 Nulato http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/NCIT_C44781 Pedro Bay http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/NCIT_C44782 Rampart http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44783 Ruby http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44784 Salamatof http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44785 Seldovia http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/NCIT_C44786 Slana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44787 Shageluk http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/NCIT_C44788 Stevens http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44789 Stony River http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/NCIT_C44790 Takotna http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/NCIT_C44791 Tanacross http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/NCIT_C44792 Tanaina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/NCIT_C44793 Tanana http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/NCIT_C44794 Tanana Chiefs http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/NCIT_C44795 Tazlina http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/NCIT_C44796 Telida http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCIT_C44797 Tetlin http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44798 Tok http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/NCIT_C44799 Tyonek http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44800 Venetie http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44801 Wiseman http://purl.obolibrary.org/obo/NCIT_C44254 Alaskan Athabascan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/NCIT_C44257 Southeast Alaska http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCIT_C44710 Angoon http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/NCIT_C44711 Central Council of Tlingit and Haida Tribes http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44712 Chilkat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C44713 Chilkoot http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C44714 Craig http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C44715 Douglas http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44716 Haida http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44717 Hoonah http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44718 Hydaburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/NCIT_C44719 Kake http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/NCIT_C44720 Kasaan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44721 Kenaitze http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/NCIT_C44722 Ketchikan http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44723 Klawock http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/NCIT_C44724 Pelican http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/NCIT_C44725 Petersburg http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44726 Saxman http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44727 Sitka http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/NCIT_C44728 Tenakee Springs http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C44729 Tlingit http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/NCIT_C44730 Wrangell http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C44731 Yakutat http://purl.obolibrary.org/obo/NCIT_C44259 Tlingit-Haida http://purl.obolibrary.org/obo/NCIT_C44263 Metlakatla http://purl.obolibrary.org/obo/NCIT_C44261 Tsimshian http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/NCIT_C44665 Ambler http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44666 Anaktuvuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/NCIT_C44667 Anaktuvuk Pass http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44668 Arctic Slope Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/NCIT_C44669 Arctic Slope Corporation http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/NCIT_C44670 Atqasuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/NCIT_C44671 Barrow http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44672 Bering Straits Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44673 Brevig Mission http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/NCIT_C44674 Buckland http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44675 Chinik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/NCIT_C44676 Council http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/NCIT_C44677 Deering http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/NCIT_C44678 Elim http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44679 Golovin http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/NCIT_C44680 Inalik Diamede http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/NCIT_C44681 Inupiaq http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/NCIT_C44682 Kaktovik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44683 Kawerak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/NCIT_C44684 Kiana http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44685 Kivalina http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/NCIT_C44686 Kobuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/NCIT_C44687 Kotzebue http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44688 Koyuk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/NCIT_C44689 Kwiguk http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/NCIT_C44690 Mauneluk Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44691 Nana Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44692 Noatak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44693 Nome http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/NCIT_C44694 Noorvik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/NCIT_C44695 Nuiqsut http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44696 Point Hope http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/NCIT_C44697 Point Lay http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/NCIT_C44698 Selawik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/NCIT_C44699 Shaktoolik http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/NCIT_C44700 Shishmaref http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C44701 Shungnak http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/NCIT_C44702 Solomon http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/NCIT_C44703 Teller http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/NCIT_C44704 Unalakleet http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44705 Wainwright http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/NCIT_C44706 Wales http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/NCIT_C44707 White Mountain http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/NCIT_C44708 White Mountain Inupiat http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/NCIT_C44709 Mary's Igloo http://purl.obolibrary.org/obo/NCIT_C44268 Inupiat Eskimo http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/NCIT_C44503 Gambell http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/NCIT_C44504 Savoonga http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/NCIT_C44505 Siberian Yupik http://purl.obolibrary.org/obo/NCIT_C44269 Siberian Eskimo http://purl.obolibrary.org/obo/NCIT_C44569 Akiachak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/NCIT_C44570 Akiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/NCIT_C44571 Alakanuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44572 Aleknagik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/NCIT_C44573 Andreafsky http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44574 Aniak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/NCIT_C44575 Atmautluak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44576 Bethel http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/NCIT_C44577 Bill Moore's Slough http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44578 Bristol Bay Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/NCIT_C44579 Calista Yupik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/NCIT_C44580 Chefornak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/NCIT_C44581 Chevak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/NCIT_C44582 Chuathbaluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44583 Clark's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/NCIT_C44584 Crooked Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44585 Dillingham http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/NCIT_C44586 Eek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44587 Ekuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/NCIT_C44588 Ekwok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44589 Emmonak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44590 Goodnews Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/NCIT_C44591 Hooper Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44592 Iqurmuit Russian Mission http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/NCIT_C44593 Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/NCIT_C44594 Kasigluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44595 Kipnuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/NCIT_C44596 Koliganek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/NCIT_C44597 Kongiganak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/NCIT_C44598 Kotlik http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44599 Kwethluk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/NCIT_C44600 Kwigillingok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/NCIT_C44601 Levelock http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44602 Lower Kalskag http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44603 Manokotak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44604 Marshall http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/NCIT_C44605 Mekoryuk http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://purl.obolibrary.org/obo/NCIT_C44606 Mountain Village http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44607 Naknek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://purl.obolibrary.org/obo/NCIT_C44608 Napaumute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://purl.obolibrary.org/obo/NCIT_C44609 Napakiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://purl.obolibrary.org/obo/NCIT_C44610 Napaskiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44611 Newhalen http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://purl.obolibrary.org/obo/NCIT_C44612 New Stuyahok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44613 Newtok http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://purl.obolibrary.org/obo/NCIT_C44614 Nightmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44615 Nunapitchukv http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://purl.obolibrary.org/obo/NCIT_C44616 Oscarville http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://purl.obolibrary.org/obo/NCIT_C44617 Pilot Station http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://purl.obolibrary.org/obo/NCIT_C44618 Pitkas Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://purl.obolibrary.org/obo/NCIT_C44619 Portage Creek http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://purl.obolibrary.org/obo/NCIT_C44620 Quinhagak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44621 Red Devil http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44623 Scammon Bay http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44624 Sheldon's Point http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://purl.obolibrary.org/obo/NCIT_C44625 Sleetmute http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44626 Stebbins http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44627 Togiak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://purl.obolibrary.org/obo/NCIT_C44628 Toksook http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44629 Tulukskak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44630 Tuntutuliak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44631 Tununak http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44632 Twin Hills http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://purl.obolibrary.org/obo/NCIT_C44633 Georgetown http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C44635 Umkumiate http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45221 Platinum Eskimo http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://purl.obolibrary.org/obo/NCIT_C45227 St. Mary's http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://purl.obolibrary.org/obo/NCIT_C45228 St. Michael http://purl.obolibrary.org/obo/NCIT_C44270 Yupik Eskimo http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://purl.obolibrary.org/obo/NCIT_C44287 Tatitlek http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44288 Ugashik http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C44655 Chignik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://purl.obolibrary.org/obo/NCIT_C44656 Chignik Lake http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44657 Egegik http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44658 Igiugig http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44659 Ivanof Bay http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://purl.obolibrary.org/obo/NCIT_C44660 King Salmon http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44661 Kokhanok http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://purl.obolibrary.org/obo/NCIT_C44662 Perryville http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44663 Pilot Point http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C44664 Port Heiden http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://purl.obolibrary.org/obo/NCIT_C44491 Chenega http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C44492 Chugach Corporation http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://purl.obolibrary.org/obo/NCIT_C44493 English Bay http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://purl.obolibrary.org/obo/NCIT_C44494 Port Graham http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://purl.obolibrary.org/obo/NCIT_C44495 Akhiok http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://purl.obolibrary.org/obo/NCIT_C44496 Agdaagux http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44497 Karluk http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C44498 Kodiak http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/NCIT_C44499 Larsen Bay http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/NCIT_C44500 Old Harbor http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride 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http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/NCIT_C44636 Akutan http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/NCIT_C44637 Aleut Corporation http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/NCIT_C44638 Aleutian Islander http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44639 Atka http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/NCIT_C44640 Belkofski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44641 Chignik Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/NCIT_C44642 King Cove http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44643 False Pass http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://purl.obolibrary.org/obo/NCIT_C44644 Nelson Lagoon http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/NCIT_C44645 Nikolski http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44646 Pauloff Harbor http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/NCIT_C44647 Qagan Toyagungin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/NCIT_C44648 Qawalangin http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/NCIT_C44651 Sand Point http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/OPMI_0000366 has process quality http://purl.obolibrary.org/obo/NCIT_C44652 South Naknek http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44653 Unalaska http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44654 Unga http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45225 St. George http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45226 St. Paul http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C44286 Alutiiq Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44289 Bristol Bay Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44290 Chugach Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44486 Eyak http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44487 Koniag Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44488 Sugpiaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44489 Suqpigaq http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44490 Unangan Aleut http://purl.obolibrary.org/obo/NCIT_C45170 Aleut http://purl.obolibrary.org/obo/NCIT_C44889 Eastern Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44890 Lenni Lenape http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44891 Munsee http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44892 Oklahoma Delaware http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44893 Rampough Mountain http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/NCIT_C44894 Sand Hill http://purl.obolibrary.org/obo/NCIT_C45222 Deleware Indian http://purl.obolibrary.org/obo/CMO_0002816 ratio of glomerular area occupied by activated mesangial cells to total glomerular area http://purl.obolibrary.org/obo/CMO_0002817 calculated kidney glomerulus measurement http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002850 mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002852 mesenteric artery phosphylated eNOS level to total eNOS level ratio http://purl.obolibrary.org/obo/CMO_0002851 calculated mesenteric artery molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002932 heart nucleic acid measurement http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002864 heart free fatty acid level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002865 heart triglyceride level http://purl.obolibrary.org/obo/CMO_0002863 heart molecular composition measurement http://purl.obolibrary.org/obo/CMO_0002867 heart left ventricle end-systolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002866 calculated heart left ventricle end-systolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002869 heart left ventricle end-systolic internal diameter index http://purl.obolibrary.org/obo/CMO_0002868 calculated heart left ventricle end-systolic internal diameter http://purl.obolibrary.org/obo/CMO_0002871 heart ventricle end-systolic septal wall index http://purl.obolibrary.org/obo/CMO_0002870 calculated heart ventricle end-systolic septal wall thickness http://purl.obolibrary.org/obo/CMO_0002881 cardiac index http://purl.obolibrary.org/obo/CMO_0002880 calculated cardiac output measurement http://purl.obolibrary.org/obo/CMO_0002883 stroke index http://purl.obolibrary.org/obo/CMO_0002882 calculated stroke volume http://purl.obolibrary.org/obo/CMO_0002885 arterial elastance http://purl.obolibrary.org/obo/CMO_0002884 calculated left ventricular end-systolic blood pressure http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002886 ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002888 preload recruitable left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002887 left ventricle stroke work http://purl.obolibrary.org/obo/CMO_0002891 heart left ventricle end-diastolic posterior wall index http://purl.obolibrary.org/obo/CMO_0002890 calculated heart left ventricle end-diastolic posterior wall thickness http://purl.obolibrary.org/obo/CMO_0002893 heart left ventricle end-diastolic anterior wall index http://purl.obolibrary.org/obo/CMO_0002892 calculated heart left ventricle end-diastolic anterior wall thickness http://purl.obolibrary.org/obo/CMO_0002895 heart ventricle end-diastolic septal wall index http://purl.obolibrary.org/obo/CMO_0002894 calculated heart ventricle end-diastolic septal wall thickness http://purl.obolibrary.org/obo/OPMI_0000097 person middle name http://purl.obolibrary.org/obo/OPMI_0000094 person name http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000104 marital status http://purl.obolibrary.org/obo/OPMI_0000109 legally separated marital status http://purl.obolibrary.org/obo/OPMI_0000105 married marital status http://purl.obolibrary.org/obo/OPMI_0000106 single marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/OPMI_0000107 divorced marrital status http://purl.obolibrary.org/obo/OPMI_0000110 not married marital status http://purl.obolibrary.org/obo/VO_0000179 vaccine component vaccine ingredient a processed material that is output of the vaccine preparation and part of a vaccine. http://purl.obolibrary.org/obo/VO_0000580 vaccine adjuvant a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. http://purl.obolibrary.org/obo/VO_0000910 vaccine allergen vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. http://purl.obolibrary.org/obo/OAE_0002081 AE occurs in http://purl.obolibrary.org/obo/BFO_0000066 occurs in adverse event occurs in a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. http://purl.obolibrary.org/obo/RO_0002234 has output http://purl.obolibrary.org/obo/RO_0000057 has_participant produces p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. http://purl.obolibrary.org/obo/RO_0000052 characteristic of http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of 'inheres in at all times' a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. http://purl.obolibrary.org/obo/RO_0000079 function of http://purl.obolibrary.org/obo/RO_0000052 characteristic of is function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000085 has function http://purl.obolibrary.org/obo/RO_0000053 bearer of has_function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0000086 has_quality http://purl.obolibrary.org/obo/RO_0000053 bearer of has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0002002 has 2D boundary http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to has_2D_boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity http://purl.obolibrary.org/obo/RO_0002087 immediately_preceded_by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) http://purl.obolibrary.org/obo/RO_0002350 member of http://purl.obolibrary.org/obo/BFO_0000050 part of member part of is member of is a mereological relation between a item and a collection. http://purl.obolibrary.org/obo/RO_0002218 has active participant http://purl.obolibrary.org/obo/RO_0000057 has_participant has agent x has participant y if and only if x realizes some active role that inheres in y http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002507 has material contribution from has_part Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 bearer of has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/RO_0002150 continuous with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to connected to X continuous_with Y if and only if X and Y share a fiat boundary. http://purl.obolibrary.org/obo/BFO_0000062 preceded_by http://purl.obolibrary.org/obo/RO_0002086 ends after preceded_by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) http://purl.obolibrary.org/obo/RO_0000081 role of http://purl.obolibrary.org/obo/RO_0000052 characteristic of role_of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002131 overlaps part_of a core relation that holds between a part and its whole http://purl.obolibrary.org/obo/RO_0002233 has input http://purl.obolibrary.org/obo/RO_0000057 has_participant consumes p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. http://purl.obolibrary.org/obo/RO_0002215 capable_of http://purl.obolibrary.org/obo/RO_0002216 capable of part of has function realized in A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. http://purl.obolibrary.org/obo/RO_0002376 tributary of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with tributary channel of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. http://purl.obolibrary.org/obo/RO_0002551 has skeleton http://purl.obolibrary.org/obo/BFO_0000051 has part has supporting framework A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in http://purl.obolibrary.org/obo/RO_0002131 overlaps has synapse in A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. http://purl.obolibrary.org/obo/RO_0002216 capable of part of http://purl.obolibrary.org/obo/RO_0002500 causal agent in process has function in c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes influences (processual) p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. http://purl.obolibrary.org/obo/RO_0002210 directly develops into http://purl.obolibrary.org/obo/RO_0002203 develops_into developmental precursor of inverse of directly develops from http://purl.obolibrary.org/obo/RO_0002224 starts with http://purl.obolibrary.org/obo/RO_0002222 temporally related to started by x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/RO_0002230 ends with http://purl.obolibrary.org/obo/RO_0002222 temporally related to finished by x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/RO_0002231 has start location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in starts with process that occurs in x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y http://purl.obolibrary.org/obo/RO_0002232 has end location http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in ends with process that occurs in x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y http://purl.obolibrary.org/obo/RO_0002256 developmentally induced by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T http://purl.obolibrary.org/obo/RO_0002285 developmentally replaces http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else http://purl.obolibrary.org/obo/RO_0004027 disease has inflammation site http://purl.obolibrary.org/obo/RO_0004026 disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity http://purl.obolibrary.org/obo/RO_0004028 realized in response to stimulus http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. http://purl.obolibrary.org/obo/RO_0004030 disease arises from structure http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. http://purl.obolibrary.org/obo/RO_0004009 has primary input http://purl.obolibrary.org/obo/RO_0002233 has input p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. http://purl.obolibrary.org/obo/BFO_0000138 proper part of occurrent http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) http://purl.obolibrary.org/obo/BFO_0000139 temporal part of http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) http://purl.obolibrary.org/obo/BFO_0000186 part of continuant at all times that whole exists http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/OAE_0002616 adverse event preceded by http://purl.obolibrary.org/obo/BFO_0000062 preceded_by a specific 'preceded by' object property that has a domain of an adverse event. http://purl.obolibrary.org/obo/RO_0002025 has effector activity http://purl.obolibrary.org/obo/RO_0002017 has component activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/KTAO_0000009 susceptible to be up-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure http://purl.obolibrary.org/obo/RO_0000057 has_participant p has anatomical participant c iff p has participant c, and c is an anatomical entity http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. http://purl.obolibrary.org/obo/KTAO_0000020 disease has protein biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease http://purl.obolibrary.org/obo/KTAO_0000023 gene biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/KTAO_0000025 RNA biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. http://purl.obolibrary.org/obo/RO_0002100 has soma location http://purl.obolibrary.org/obo/RO_0002131 overlaps Relation between a neuron and a material anatomical entity that its soma is part of. http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to increased_in_magnitude_relative_to http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/RO_0002160 only in taxon http://purl.obolibrary.org/obo/RO_0002162 in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p http://purl.obolibrary.org/obo/RO_0002162 in taxon http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. http://purl.obolibrary.org/obo/RO_0002286 developmentally succeeded by http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving Inverse of developmentally preceded by http://purl.obolibrary.org/obo/RO_0002371 attaches_to http://purl.obolibrary.org/obo/RO_0002177 attached to part of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving http://purl.obolibrary.org/obo/RO_0002324 developmentally related to x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). http://purl.obolibrary.org/obo/RO_0002388 has potential to directly develop into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y http://purl.obolibrary.org/obo/RO_0002178 supplies http://purl.obolibrary.org/obo/RO_0002170 connected to relation between an artery and the structure is supplies with blood. http://purl.obolibrary.org/obo/RO_0002380 branching part of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y http://purl.obolibrary.org/obo/RO_0002569 has branching part http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of branching part of http://purl.obolibrary.org/obo/RO_0002571 lumen of http://purl.obolibrary.org/obo/BFO_0000050 part of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to anteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. http://purl.obolibrary.org/obo/uberon/core#distally_connected_to distally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. http://purl.obolibrary.org/obo/uberon/core#in_central_side_of in_central_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to posteriorly connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to proximally connected to http://purl.obolibrary.org/obo/RO_0002170 connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. http://purl.obolibrary.org/obo/RO_0004020 disease has basis in dysfunction of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. http://purl.obolibrary.org/obo/RO_0004021 disease has basis in disruption of http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. http://purl.obolibrary.org/obo/RO_0004022 disease has basis in feature http://purl.obolibrary.org/obo/RO_0004019 disease has basis in A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. http://purl.obolibrary.org/obo/RO_0004024 disease causes disruption of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. http://purl.obolibrary.org/obo/RO_0004007 has primary input or output http://purl.obolibrary.org/obo/RO_0000057 has_participant p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. http://purl.obolibrary.org/obo/RO_0004008 has primary output http://purl.obolibrary.org/obo/RO_0004007 has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. http://purl.obolibrary.org/obo/BFO_0000063 precedes http://purl.obolibrary.org/obo/RO_0002222 temporally related to x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. http://purl.obolibrary.org/obo/IAO_0000219 denotes http://purl.obolibrary.org/obo/IAO_0000136 is about A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically http://purl.obolibrary.org/obo/IAO_0000413 is duration of http://purl.obolibrary.org/obo/IAO_0000136 is about relates a process to a time-measurement-datum that represents the duration of the process http://purl.obolibrary.org/obo/OBI_0000107 provides_service_consumer_with http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. http://purl.obolibrary.org/obo/OBI_0000293 has_specified_input http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_input_of http://purl.obolibrary.org/obo/OBI_0000295 is_specified_input_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OBI_0000299 has_specified_output http://purl.obolibrary.org/obo/RO_0000057 has_participant The inverse property of is_specified_output_of http://purl.obolibrary.org/obo/OBI_0000312 is_specified_output_of http://purl.obolibrary.org/obo/RO_0000056 participates_in A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. http://purl.obolibrary.org/obo/OBI_0000643 has grain http://purl.obolibrary.org/obo/BFO_0000051 has part the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. http://purl.obolibrary.org/obo/OBI_0001938 has value specification http://purl.obolibrary.org/obo/BFO_0000051 has part A relation between an information content entity and a value specification that specifies its value. http://purl.obolibrary.org/obo/RO_0002219 surrounded_by http://purl.obolibrary.org/obo/RO_0002220 adjacent_to x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y http://purl.obolibrary.org/obo/RO_0002220 adjacent_to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from x adjacent_to y iff: x and y share a boundary http://purl.obolibrary.org/obo/RO_0002223 starts http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares a start boundary with. http://purl.obolibrary.org/obo/RO_0002351 has member http://purl.obolibrary.org/obo/BFO_0000051 has part has member is a mereological relation between a collection and an item. http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/RO_0002180 has_component w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/RO_0002202 develops_from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that holds between a disease and organism http://purl.obolibrary.org/obo/OGG_0000000014 is genome of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a 'part of continuant at some time' relation that incides a genome belongs to a organism. http://purl.obolibrary.org/obo/OGG_0000000016 is gene of organism http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. http://purl.obolibrary.org/obo/RO_0002176 connects http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/RO_0002491 existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) http://purl.obolibrary.org/obo/RO_0002333 enabled by http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of enables http://purl.obolibrary.org/obo/RO_0002412 immediately causally upstream of http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. http://purl.obolibrary.org/obo/RO_0002566 causally influences http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b http://purl.obolibrary.org/obo/BFO_0000187 has continuant part at all times that part exists http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to Any relationship between an exposure event or process and any other entity. http://purl.obolibrary.org/obo/RO_0002252 connecting branch of http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. http://purl.obolibrary.org/obo/RO_0002253 has connecting branch http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with inverse of connecting branch of http://purl.obolibrary.org/obo/RO_0002304 causally upstream of, positive effect http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. http://purl.obolibrary.org/obo/RO_0002305 causally upstream of, negative effect http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. http://purl.obolibrary.org/obo/RO_0002131 overlaps http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A overlaps B if they share some part in common. http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002507 has material contribution from x has developmental contribution from y iff x has some part z such that z develops from y http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. http://purl.obolibrary.org/obo/BFO_0000052 inheres in at all times http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) http://purl.obolibrary.org/obo/RO_0000091 has disposition http://purl.obolibrary.org/obo/RO_0000053 bearer of a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence http://purl.obolibrary.org/obo/BSPO_0000120 in left side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/BSPO_0000121 in right side of http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/BSPO_0000122 in_posterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. http://purl.obolibrary.org/obo/BSPO_0000123 in_anterior_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of http://purl.obolibrary.org/obo/BFO_0000050 part of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. http://purl.obolibrary.org/obo/BSPO_0000126 in lateral side of http://purl.obolibrary.org/obo/BFO_0000050 part of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/BSPO_0001106 proximalmost part of http://purl.obolibrary.org/obo/BSPO_0000124 in_proximal_side_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y http://purl.obolibrary.org/obo/BSPO_0001107 immediately_deep_to http://purl.obolibrary.org/obo/BSPO_0000107 deep_to This relation holds when both the deep_to and ajdacent_to relationship similarly hold. http://purl.obolibrary.org/obo/BSPO_0001108 distalmost part of http://purl.obolibrary.org/obo/BSPO_0000125 in_distal_side_of X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y http://purl.obolibrary.org/obo/RO_0012003 acts on population of http://purl.obolibrary.org/obo/RO_0000057 has_participant p acts on population of c iff c' is a collection, has members of type c, and p has participant c http://purl.obolibrary.org/obo/RO_0013001 has synaptic IO in region http://purl.obolibrary.org/obo/RO_0002130 has synaptic terminal in A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. http://purl.obolibrary.org/obo/RO_0002411 causally upstream of http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. http://purl.obolibrary.org/obo/RO_0002211 has_component http://purl.obolibrary.org/obo/RO_0002411 causally upstream of p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. http://purl.obolibrary.org/obo/RO_0002212 negatively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/RO_0002213 positively regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. http://purl.obolibrary.org/obo/pr#has_gene_template has_gene_template http://purl.obolibrary.org/obo/RO_0002330 genomically related to See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. http://purl.obolibrary.org/obo/RO_0002180 has_component http://purl.obolibrary.org/obo/BFO_0000051 has part w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A is spatially_disjoint_from B if and only if they have no parts in common http://purl.obolibrary.org/obo/RO_0002314 characteristic of part of http://purl.obolibrary.org/obo/RO_0002502 depends on q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. http://purl.obolibrary.org/obo/RO_0002352 input of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has input http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/RO_0002328 functionally related to inverse of has output http://purl.obolibrary.org/obo/RO_0002473 composed primarily of http://purl.obolibrary.org/obo/BFO_0000051 has part x composed_primarily_of y iff: more than half of the mass of x is made from parts of y http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount has_high_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount has_low_plasma_membrane_amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part http://purl.obolibrary.org/obo/BFO_0000051 has part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. http://purl.obolibrary.org/obo/RO_0002203 develops_into http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into inverse of develops from http://purl.obolibrary.org/obo/RO_0002387 has potential to develop into http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has the potential to develop into y iff x develops into y or if x is capable of developing into y http://purl.obolibrary.org/obo/RO_0002021 occurs across http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. http://purl.obolibrary.org/obo/KTAO_0000016 is gene marker of cell http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type http://purl.obolibrary.org/obo/KTAO_0000017 cell has gene marker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker http://purl.obolibrary.org/obo/RO_0015007 increased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/BFO_0000162 has disposition at all times http://purl.obolibrary.org/obo/BFO_0000158 bearer of at all times a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) http://purl.obolibrary.org/obo/RO_0015008 decreased in magnitude relative to http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/RO_0002007 bounding layer of http://purl.obolibrary.org/obo/BFO_0000050 part of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 http://purl.obolibrary.org/obo/RO_0002170 connected to http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. http://purl.obolibrary.org/obo/RO_0002177 attached to part of http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. http://purl.obolibrary.org/obo/RO_0002179 drains http://purl.obolibrary.org/obo/RO_0002170 connected to Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. http://purl.obolibrary.org/obo/RO_0002375 in branching relationship with http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. http://purl.obolibrary.org/obo/RO_0002503 towards http://purl.obolibrary.org/obo/RO_0002502 depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 http://purl.obolibrary.org/obo/RO_0002567 biomechanically related to http://purl.obolibrary.org/obo/RO_0002328 functionally related to A relation that holds between elements of a musculoskeletal system or its analogs. http://purl.obolibrary.org/obo/RO_0002433 contributes to morphology of http://purl.obolibrary.org/obo/RO_0002131 overlaps p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. http://purl.obolibrary.org/obo/RO_0002489 existence starts with http://purl.obolibrary.org/obo/RO_0002488 existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0002497 existence ends during or before Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. http://purl.obolibrary.org/obo/RO_0002493 existence ends with http://purl.obolibrary.org/obo/RO_0002492 existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. http://purl.obolibrary.org/obo/RO_0002494 transformation of http://purl.obolibrary.org/obo/RO_0002202 develops_from x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships http://purl.obolibrary.org/obo/RO_0002495 immediate transformation of http://purl.obolibrary.org/obo/RO_0002207 directly develops from x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t http://purl.obolibrary.org/obo/RO_0002507 has material contribution from http://purl.obolibrary.org/obo/RO_0002559 causally influenced by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. http://purl.obolibrary.org/obo/RO_0002572 luminal space of http://purl.obolibrary.org/obo/BFO_0000050 part of s is luminal space of x iff s is lumen_of x and s is an immaterial entity http://purl.obolibrary.org/obo/RO_0002576 skeleton of http://purl.obolibrary.org/obo/BFO_0000050 part of inverse of has skeleton http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into extends_fibers_into http://purl.obolibrary.org/obo/RO_0002170 connected to X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y http://purl.obolibrary.org/obo/KTAO_0000003 susceptible to be up-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/KTAO_0000004 susceptible to be down-regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient http://purl.obolibrary.org/obo/OPMI_0000171 has question http://purl.obolibrary.org/obo/BFO_0000051 has part A 'has part' object property that has the range of a textual question http://purl.obolibrary.org/obo/pr#has_constituent_monomer has_constituent_monomer http://purl.obolibrary.org/obo/RO_0002180 has_component A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. http://purl.obolibrary.org/obo/BFO_0000118 has proper occurrent part http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 http://purl.obolibrary.org/obo/RO_0002255 developmentally_contributes_to http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to inverse of has developmental contribution from http://purl.obolibrary.org/obo/RO_0002334 regulated by http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within inverse of regulates http://purl.obolibrary.org/obo/RO_0002335 negatively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of negatively regulates http://purl.obolibrary.org/obo/RO_0002336 positively regulated by http://purl.obolibrary.org/obo/RO_0002334 regulated by inverse of positively regulates http://purl.obolibrary.org/obo/RO_0002385 has potential to developmentally contribute to http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002609 related via dependence to relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. http://purl.obolibrary.org/obo/RO_0002427 causally downstream of or within http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes inverse of causally upstream of or within http://purl.obolibrary.org/obo/RO_0002500 causal agent in process http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process A relationship between a material entity and a process where the material entity has some causal role that influences the process http://purl.obolibrary.org/obo/RO_0002501 causal relation between processes http://purl.obolibrary.org/obo/RO_0002410 causally related to p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. http://purl.obolibrary.org/obo/RO_0002595 causal relation between material entity and a process http://purl.obolibrary.org/obo/RO_0002410 causally related to A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. http://purl.obolibrary.org/obo/RO_0002608 process has causal agent http://purl.obolibrary.org/obo/RO_0002410 causally related to Inverse of 'causal agent in process' http://purl.obolibrary.org/obo/KTAO_0000010 susceptible to be down-regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. http://purl.obolibrary.org/obo/KTAO_0000012 susceptible to be up-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/KTAO_0000013 susceptible to be down-regulated in AKI in cell http://purl.obolibrary.org/obo/KTAO_0000007 susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient http://purl.obolibrary.org/obo/KTAO_0000014 susceptible to be down-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/KTAO_0000015 susceptible to be up-regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. http://purl.obolibrary.org/obo/OPMI_0000438 has increased susceptibility compared to male to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population http://purl.obolibrary.org/obo/OPMI_0000439 has increased susceptibility compared to female to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population http://purl.obolibrary.org/obo/OPMI_0000440 has increased sex-specific susceptibility compared to sex baseline to http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included http://purl.obolibrary.org/obo/KTAO_0000024 protein biomarker of disease http://purl.obolibrary.org/obo/KTAO_0000022 biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. http://purl.obolibrary.org/obo/RO_0002082 simultaneous_with http://purl.obolibrary.org/obo/RO_0002229 ends x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. http://purl.obolibrary.org/obo/RO_0002206 expressed in http://purl.obolibrary.org/obo/RO_0002330 genomically related to x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process http://purl.obolibrary.org/obo/RO_0002207 directly develops from http://purl.obolibrary.org/obo/RO_0002202 develops_from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. http://purl.obolibrary.org/obo/RO_0002221 surrounds http://purl.obolibrary.org/obo/RO_0002220 adjacent_to inverse of surrounded_by http://purl.obolibrary.org/obo/RO_0002225 develops from part of http://purl.obolibrary.org/obo/RO_0002202 develops_from x develops from part of y if and only if there exists some z such that x develops from z and z is part of y http://purl.obolibrary.org/obo/RO_0002229 ends http://purl.obolibrary.org/obo/BFO_0000050 part of Relation between occurrents, shares an end boundary with. http://purl.obolibrary.org/obo/RO_0002257 developmentally induces http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce Inverse of developmentally induced by http://purl.obolibrary.org/obo/RO_0002292 expresses http://purl.obolibrary.org/obo/RO_0002330 genomically related to y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/RO_0002324 developmentally related to p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). http://purl.obolibrary.org/obo/RO_0002296 results in development of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://purl.obolibrary.org/obo/RO_0002298 results in morphogenesis of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. http://purl.obolibrary.org/obo/RO_0009501 realized in response to http://purl.obolibrary.org/obo/RO_0002410 causally related to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. http://purl.obolibrary.org/obo/OPMI_0000301 has exclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. http://purl.obolibrary.org/obo/OPMI_0000305 has inclusion question http://purl.obolibrary.org/obo/OPMI_0000171 has question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. http://purl.obolibrary.org/obo/RO_0015015 has high plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/RO_0015016 has low plasma membrane amount http://purl.obolibrary.org/obo/RO_0002104 has plasma membrane part A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. http://purl.obolibrary.org/obo/RO_0002315 results in acquisition of features of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity http://purl.obolibrary.org/obo/RO_0002332 regulates levels of http://purl.obolibrary.org/obo/RO_0002328 functionally related to p regulates levels of c if p regulates some amount (PATO:0000070) of c http://purl.obolibrary.org/obo/RO_0002338 has target start location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. http://purl.obolibrary.org/obo/RO_0002339 has target end location http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. http://purl.obolibrary.org/obo/RO_0002341 results in transport along http://purl.obolibrary.org/obo/RO_0002337 related via localization to Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l http://purl.obolibrary.org/obo/RO_0002342 results in transport across http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. http://purl.obolibrary.org/obo/RO_0002386 has potential to developmentally induce http://purl.obolibrary.org/obo/RO_0002384 has developmental potential involving x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y http://purl.obolibrary.org/obo/RO_0002508 determines http://purl.obolibrary.org/obo/RO_0002566 causally influences inverse of determined by http://purl.obolibrary.org/obo/RO_0002509 determined by part of http://purl.obolibrary.org/obo/RO_0002131 overlaps s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. http://purl.obolibrary.org/obo/RO_0002565 results in movement of http://purl.obolibrary.org/obo/RO_0040036 results in changes to anatomical or cellular structure Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c http://purl.obolibrary.org/obo/RO_0002570 conduit for http://purl.obolibrary.org/obo/RO_0002131 overlaps x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. http://purl.obolibrary.org/obo/RO_0002578 directly regulates http://purl.obolibrary.org/obo/RO_0002211 has_component p directly regulates q iff p is immediately causally upstream of q and p regulates q. http://purl.obolibrary.org/obo/RO_0002586 results in breakdown of http://purl.obolibrary.org/obo/RO_0002233 has input p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0000057 has_participant p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c http://purl.obolibrary.org/obo/RO_0002081 before or simultaneous with http://purl.obolibrary.org/obo/RO_0002222 temporally related to <= http://purl.obolibrary.org/obo/RO_0002090 immediately precedes http://purl.obolibrary.org/obo/BFO_0000063 precedes meets http://purl.obolibrary.org/obo/RO_0002327 enables http://purl.obolibrary.org/obo/RO_0002215 capable_of is executing http://purl.obolibrary.org/obo/RO_0002091 starts during http://purl.obolibrary.org/obo/RO_0002222 temporally related to io http://purl.obolibrary.org/obo/RO_0002092 happens during http://purl.obolibrary.org/obo/RO_0002093 ends_during during http://purl.obolibrary.org/obo/RO_0002093 ends_during http://purl.obolibrary.org/obo/RO_0002222 temporally related to overlaps http://purl.obolibrary.org/obo/mondo#disease_has_major_feature disease has major feature http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/KTAO_0000021 disease has RNA biomarker http://purl.obolibrary.org/obo/KTAO_0000019 disease has gene biomarker http://purl.obolibrary.org/obo/KTAO_0000018 disease has biomarker http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/KTAO_0000050 is biomarker of cell http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/RO_0002297 results in formation of http://purl.obolibrary.org/obo/RO_0002295 results in developmental progression of http://purl.obolibrary.org/obo/GOREL_0002004 results in fission of http://purl.obolibrary.org/obo/RO_0000057 has_participant http://purl.obolibrary.org/obo/RO_0002017 has component activity http://purl.obolibrary.org/obo/RO_0002018 has component process http://purl.obolibrary.org/obo/IAO_0000039 has measurement unit label http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002559 causally influenced by http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/so#member_of member_of http://purl.obolibrary.org/obo/so#part_of part_of http://purl.obolibrary.org/obo/BFO_0000168 has specific dependent at all times http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/RO_0002086 ends after http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/RO_0002354 formed as result of http://purl.obolibrary.org/obo/RO_0002353 output_of http://purl.obolibrary.org/obo/KTAO_0000053 encodes protein http://purl.obolibrary.org/obo/RO_0002330 genomically related to http://purl.obolibrary.org/obo/BFO_0000070 specifically depends on at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/uberon/core#existence_starts_and_ends_during existence starts and ends during http://purl.obolibrary.org/obo/RO_0002492 existence ends during http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0004025 disease causes dysfunction of http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/KTAO_0000008 susceptible to be differentially regulated in CKD in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/KTAO_0000002 susceptible to be differentially regulated in CKD in cell http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/KTAO_0000011 susceptible to be differentially regulated in AKI in anatomic location http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease http://purl.obolibrary.org/obo/RO_0002506 causal relation between material entities http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004018 is basis for realizable http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/RO_0004046 causally upstream of or within, negative effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0004047 causally upstream of or within, positive effect http://purl.obolibrary.org/obo/RO_0002418 causally upstream of or within http://purl.obolibrary.org/obo/RO_0002588 results in assembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/BFO_0000154 temporal projection of spatiotemporal http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000156 has temporal occupant http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000153 projects onto temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/BFO_0000155 occupies temporal region http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/RO_0002344 results in transport to from or in http://purl.obolibrary.org/obo/RO_0002337 related via localization to http://purl.obolibrary.org/obo/RO_0002590 results in disassembly of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/RO_0012008 results in fusion of http://purl.obolibrary.org/obo/RO_0002592 results in organization of http://purl.obolibrary.org/obo/OBI_0000304 is_manufactured_by has_manufacturer c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. http://purl.obolibrary.org/obo/RO_0000053 bearer of is bearer of Inverse of characteristic_of http://purl.obolibrary.org/obo/RO_0000056 participates_in participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/RO_0000057 has_participant has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process http://purl.obolibrary.org/obo/RO_0001000 derives from derives_from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/RO_0001001 derives into derives_into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity http://purl.obolibrary.org/obo/RO_0001015 location of location_of a relation between two independent continuants, the location and the target, in which the target is entirely within the location http://purl.obolibrary.org/obo/RO_0001025 located_in located_in a relation between two independent continuants, the target and the location, in which the target is entirely within the location http://purl.obolibrary.org/obo/BFO_0000066 occurs in unfolds_in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/OPMI_0000186 has answer has answer to question An object property that indicates a relation between a question and an answer http://purl.obolibrary.org/obo/VO_0001243 immunizes host immunization for host a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. http://purl.obolibrary.org/obo/VO_0003355 immunizes against microbe immunization against microbe a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) http://purl.obolibrary.org/obo/uberon/core#filtered_through filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. http://purl.obolibrary.org/obo/OAE_0001788 has participant quality an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/pato#has_cross_section has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/RO_0002320 evolutionarily related to A relationship that holds via some environmental process http://purl.obolibrary.org/obo/RO_0002324 developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502) http://purl.obolibrary.org/obo/uberon/core#site_of site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to transitively anteriorly connected to . http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to transitively distally connected to . http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to transitively proximally connected to . http://purl.obolibrary.org/obo/BFO_0000067 contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t http://purl.obolibrary.org/obo/IAO_0000136 is about A (currently) primitive relation that relates an information artifact to an entity. http://purl.obolibrary.org/obo/OBI_0000124 is_supported_by_data The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process http://purl.obolibrary.org/obo/OBI_0000417 achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/OBI_0000833 objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. http://purl.obolibrary.org/obo/RO_0000059 concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/RO_0002200 has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). http://purl.obolibrary.org/obo/RO_0003000 produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. http://purl.obolibrary.org/obo/RO_0003001 produced_by a produced_by b iff some process that occurs_in b has_output a. http://purl.obolibrary.org/obo/BFO_0000117 has occurrent part b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/RO_0002573 has modifier A relation that holds between an attribute or a qualifier and another attribute. http://purl.obolibrary.org/obo/so#has_part has_part Inverse of part_of. http://purl.obolibrary.org/obo/so#part_of part_of X part_of Y if X is a subregion of Y. http://purl.obolibrary.org/obo/OPMI_0000216 has digit number A data property that represents a relation between a data type and a number of integer digits that the data type has. http://purl.obolibrary.org/obo/OPMI_0000622 has status content An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. http://purl.obolibrary.org/obo/BSPO_0000096 anterior_to x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer http://purl.obolibrary.org/obo/BSPO_0000097 distal to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). http://purl.obolibrary.org/obo/BSPO_0000098 dorsal to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/BSPO_0000099 posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. http://purl.obolibrary.org/obo/BSPO_0000100 proximal_to x proximal_to y iff x is closer to the point of attachment with the body than y. http://purl.obolibrary.org/obo/BSPO_0000102 ventral to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). http://purl.obolibrary.org/obo/BSPO_0000107 deep_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. http://purl.obolibrary.org/obo/BSPO_0000108 superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. http://purl.obolibrary.org/obo/RO_0015006 different in magnitude relative to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. http://purl.obolibrary.org/obo/pr#lacks_part lacks_part A negation of the has_part relation. http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to A mereological relationship or a topological relationship http://purl.obolibrary.org/obo/RO_0002328 functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. http://purl.obolibrary.org/obo/RO_0015011 has cross section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. http://purl.obolibrary.org/obo/RO_0015012 reciprocal of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. http://purl.obolibrary.org/obo/OPMI_0000481 has identifier An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. http://purl.obolibrary.org/obo/OPMI_0000501 admitted from An object property that represents a relation between a patient and a site from which the patient was admitted. http://purl.obolibrary.org/obo/OPMI_0000502 discharged to An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://purl.obolibrary.org/obo/BFO_0000132 part of occurrent [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) http://purl.obolibrary.org/obo/BFO_0000176 part of continuant at some time [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/RO_0002330 genomically related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. http://purl.obolibrary.org/obo/RO_0002321 ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) http://purl.obolibrary.org/obo/uberon/core#conduit_for conduit for x is a conduit for y iff y passes through the lumen of x. http://purl.obolibrary.org/obo/KTAO_0000001 susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. http://purl.obolibrary.org/obo/IAO_0000235 denoted by inverse of the relation 'denotes' http://purl.obolibrary.org/obo/RO_0002134 innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. http://purl.obolibrary.org/obo/BFO_0000178 has continuant part at some time b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) http://purl.obolibrary.org/obo/RO_0002479 has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. http://purl.obolibrary.org/obo/RO_0002609 related via dependence to A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. http://purl.obolibrary.org/obo/OPMI_0000424 has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process http://purl.obolibrary.org/obo/RO_0002201 phenotype of inverse of has phenotype http://purl.obolibrary.org/obo/OPMI_0000069 executed in A shortcut relation that is concretized and realized in some process. http://purl.obolibrary.org/obo/RO_0002337 related via localization to A relationship that holds via some process of localization http://purl.obolibrary.org/obo/VO_0000531 has vaccine allergen a object property that specifies a relation between a vaccine and a vaccine allergen http://purl.obolibrary.org/obo/RO_0040035 disease relationship This relation groups relations between diseases and any other kind of entity. http://purl.obolibrary.org/obo/BFO_0000054 realized in realized_in http://purl.obolibrary.org/obo/BFO_0000053 is_bearer_of bearer_of http://purl.obolibrary.org/obo/mondo#disease_causes_feature disease causes feature http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of disease_has_basis_in_development_of http://purl.obolibrary.org/obo/mondo#predisposes_towards predisposes towards http://purl.obolibrary.org/obo/BFO_0000126 has spatiotemporal occupant http://purl.obolibrary.org/obo/BFO_0000130 occupies spatiotemporal region http://purl.obolibrary.org/obo/BFO_0000151 projects onto spatial region at some time http://purl.obolibrary.org/obo/BFO_0000152 spatial projection of spatiotemporal at some time http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_ChemClass CI_ChemClass http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#CI_with CI_with http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Code Class_Code http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Class_Description Class_Description http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Display_Name Display_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#FDA_UNII FDA_UNII http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Level Level http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_CUI MeSH_CUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_DUI MeSH_DUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Definition MeSH_Definition http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#MeSH_Name MeSH_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#NUI NUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Print_Name Print_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Product_Component Product_Component http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_CUI RxNorm_CUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#RxNorm_Name RxNorm_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Strength Strength http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Synonym Synonym http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#UMLS_CUI UMLS_CUI http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Units Units http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VANDF_Record VANDF_Record http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VA_National_Formulary_Name VA_National_Formulary_Name http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#VUID VUID http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_Ingredient has_Ingredient http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_MoA has_MoA http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PE has_PE http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#has_PK has_PK http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#induces induces http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_prevent may_prevent http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#may_treat may_treat http://purl.obolibrary.org/obo/KTAO_0000049 biomarker related http://purl.obolibrary.org/obo/uberon/core#channels_from channels_from http://purl.obolibrary.org/obo/uberon/core#channels_into channels_into http://purl.obolibrary.org/obo/BFO_0000055 realizes http://purl.obolibrary.org/obo/IAO_0000004 has measurement value http://purl.obolibrary.org/obo/OBI_0001688 has organization member http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#SNOMED_CID SNOMED_CID http://purl.obolibrary.org/obo/exo.obo#interacts_with interacts_with http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via interacts_with_an_exposure_receptor_via http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via interacts_with_an_exposure stressor_via http://purl.obolibrary.org/obo/mondo#disease_shares_features_of disease shares features of http://purl.obolibrary.org/obo/chebi#has_parent_hydride has parent hydride http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of is conjugate acid of http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of is conjugate base of http://purl.obolibrary.org/obo/chebi#is_substituent_group_from is substituent group from http://purl.obolibrary.org/obo/BFO_0000083 occupies spatial region at some time http://purl.obolibrary.org/obo/BFO_0000123 has spatial occupant at some time http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/so#has_quality has_quality http://purl.obolibrary.org/obo/BFO_0000125 has specific dependent at some time http://purl.obolibrary.org/obo/OMRSE_00000020 is-aggregate-of http://purl.obolibrary.org/obo/CL_4030045 lacks_part http://purl.obolibrary.org/obo/RO_0002222 temporally related to http://purl.obolibrary.org/obo/CL_4030044 has_not_completed http://purl.obolibrary.org/obo/CL_4030046 lacks_plasma_membrane_part http://purl.obolibrary.org/obo/RO_0002502 depends on http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part lacks_plasma_membrane_part http://purl.obolibrary.org/obo/cl#lacks_part lacks_part http://purl.obolibrary.org/obo/BFO_0000167 has participant at all times http://purl.obolibrary.org/obo/BFO_0000169 specifically depends on at some time http://purl.obolibrary.org/obo/uberon/core#channel_for channel for http://purl.obolibrary.org/obo/uberon/core#protects protects http://purl.obolibrary.org/obo/uberon/core#subdivision_of subdivision of http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to transitively_connected to http://purl.obolibrary.org/obo/mondo#disease_responds_to disease responds to http://purl.obolibrary.org/obo/OPMI_0000185 form generated by http://www.obofoundry.org/ro/ro.owl#has_proper_part has_proper_part http://purl.obolibrary.org/obo/RO_0002005 innervated_by http://purl.obolibrary.org/obo/cl#has_completed has_completed http://purl.obolibrary.org/obo/cl#has_not_completed has_not_completed http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#Status Status http://purl.obolibrary.org/obo/BFO_0000058 concretized by at some time http://purl.obolibrary.org/obo/BFO_0000059 concretizes at some time http://purl.obolibrary.org/obo/BFO_0000157 during which exists http://purl.obolibrary.org/obo/BFO_0000108 exists at http://purl.obolibrary.org/obo/OPMI_0000306 quality measured by year http://purl.obolibrary.org/obo/OPMI_0000366 has process quality